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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Primary Coenzyme Q10 Deficiency Overview - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_title" content="Primary Coenzyme Q10 Deficiency Overview">
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<meta name="citation_publisher" content="University of Washington, Seattle">
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<meta name="citation_date" content="2023/06/08">
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<meta name="citation_author" content="Leonardo Salviati">
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<meta name="citation_author" content="Eva Trevisson">
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<meta name="citation_author" content="Caterina Agosto">
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<meta name="citation_author" content="Mara Doimo">
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<meta name="citation_author" content="Placido Navas">
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<meta name="citation_keywords" content="Primary Ubiquinone Deficiency">
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<meta name="citation_keywords" content="Coenzyme Q Deficiency">
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<meta name="citation_keywords" content="CoQ Deficiency">
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<meta name="citation_keywords" content="Primary CoQ10 Deficiency">
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<meta name="citation_keywords" content="Ubiquinone Deficiency">
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<meta name="citation_keywords" content="2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial">
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<meta name="citation_keywords" content="5-demethoxyubiquinone hydroxylase, mitochondrial">
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<meta name="citation_keywords" content="All trans-polyprenyl-diphosphate synthase PDSS1">
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<meta name="citation_keywords" content="All trans-polyprenyl-diphosphate synthase PDSS2">
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<meta name="citation_keywords" content="Atypical kinase ADCK3, mitochondrial">
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<meta name="citation_keywords" content="Atypical kinase COQ8B, mitochondrial">
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<meta name="citation_keywords" content="Para-hydroxybenzoate--polyprenyltransferase, mitochondrial">
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<meta name="citation_keywords" content="Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial">
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<meta name="citation_keywords" content="Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial">
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<meta name="citation_keywords" content="Ubiquinone biosynthesis protein COQ9, mitochondrial">
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<meta name="citation_keywords" content="COQ2">
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<meta name="citation_keywords" content="COQ4">
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<meta name="citation_keywords" content="COQ5">
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<meta name="citation_keywords" content="COQ6">
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<meta name="citation_keywords" content="PDSS1">
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<meta name="DC.Contributor" content="Leonardo Salviati">
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yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK410087_"><span class="title" itemprop="name">Primary Coenzyme Q<sub>10</sub> Deficiency Overview</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonym: Primary Ubiquinone Deficiency</div><p class="contribs">Salviati L, Trevisson E, Agosto C, et al.</p><p class="fm-aai"><a href="#_NBK410087_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 29 minutes</em></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="coq10-def.Summary" itemprop="description"><h2 id="_coq10-def_Summary_">Summary</h2><p>The purpose of this overview is to:</p><dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>1.</dt><dd><p class="no_top_margin">Briefly describe the <a href="#coq10-def.Clinical_Characteristics_of_Pr">clinical characteristics</a> of primary coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) deficiency.</p></dd></dl><dl class="bkr_refwrap"><dt>2.</dt><dd><p class="no_top_margin">Increase the awareness of clinicians regarding <a href="#coq10-def.Genetic_Causes_of_Primary_Coen">genetic causes</a> of primary CoQ<sub>10</sub> deficiency.</p></dd></dl><dl class="bkr_refwrap"><dt>3.</dt><dd><p class="no_top_margin">Review the <a href="#coq10-def.Differential_Diagnosis_of_Prim">differential diagnosis</a> of primary CoQ<sub>10</sub> deficiency with a focus on genetic conditions.</p></dd></dl><dl class="bkr_refwrap"><dt>4.</dt><dd><p class="no_top_margin">Provide an <a href="#coq10-def.Evaluation_Strategies_to_Ident">evaluation strategy</a> to identify the genetic cause of primary CoQ<sub>10</sub> deficiency in a proband.</p></dd></dl><dl class="bkr_refwrap"><dt>5.</dt><dd><p class="no_top_margin">Review <a href="#coq10-def.Management">management</a> of primary CoQ<sub>10</sub> deficiency, including targeted pharmacologic treatment with high-dose oral CoQ<sub>10</sub> supplementation and supportive treatment.</p></dd></dl><dl class="bkr_refwrap"><dt>6.</dt><dd><p class="no_top_margin">Inform <a href="#coq10-def.Genetic_Counseling">genetic counseling</a> of family members of an individual with primary CoQ<sub>10</sub> deficiency.</p></dd></dl></dl>
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</div><div id="coq10-def.Clinical_Characteristics_of_Pr"><h2 id="_coq10-def_Clinical_Characteristics_of_Pr_">1. Clinical Characteristics of Primary Coenzyme Q<sub>10</sub> Deficiency</h2><p>Primary deficiency of coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>), a lipid component of the mitochondrial respiratory chain, is classified as a mitochondrial respiratory chain disorder [<a class="bibr" href="#coq10-def.REF.dimauro.2013.429" rid="coq10-def.REF.dimauro.2013.429">DiMauro et al 2013</a>]. In this <i>GeneReview</i>, the term "primary CoQ<sub>10</sub> deficiency" refers to the group of conditions characterized by a reduction of CoQ<sub>10</sub> levels in tissues or cultured cells associated with biallelic pathogenic variants in one of the ten genes involved in the biosynthesis of CoQ<sub>10</sub>.</p><p>Primary CoQ<sub>10</sub> deficiency (also referred to as primary ubiquinone deficiency) is associated with an extremely heterogeneous group of clinical manifestations, as described below (see also <a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie/?report=objectonly" target="object" rid-ob="figobcoq10defTprimarycoenzymeq10deficie">Table 1</a>).</p><div id="coq10-def.Clinical_Manifestations"><h3>Clinical Manifestations</h3><p>The manifestations of primary CoQ<sub>10</sub> deficiency vary (see <a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie/?report=objectonly" target="object" rid-ob="figobcoq10defTprimarycoenzymeq10deficie">Table 1</a>). Traditionally, clinical presentations have been classified into five distinct phenotypes: encephalomyopathy, cerebellar ataxia, severe infantile multisystem disease, steroid-resistant nephrotic syndrome, and isolated myopathy [<a class="bibr" href="#coq10-def.REF.emmanuele.2012.978" rid="coq10-def.REF.emmanuele.2012.978">Emmanuele et al 2012</a>]. This classification is now outdated because the range of clinical phenotypes is much wider, and different combinations of findings with significant overlap have been identified. Furthermore, no individuals with molecularly confirmed primary CoQ<sub>10</sub> deficiency with isolated myopathy have been reported [Authors, personal observation], since most individuals reported with predominantly muscle disease have secondary CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.desbats.2015a.145" rid="coq10-def.REF.desbats.2015a.145">Desbats et al 2015a</a>] (see <a href="#coq10-def.Differential_Diagnosis_of_Prim">Differential Diagnosis</a>).</p><p>The broad age of onset of primary CoQ<sub>10</sub> deficiency is exemplified by <i>COQ2</i>-related CoQ<sub>10</sub> deficiency, in which onset ranges from birth to the seventh decade.</p><p>The <a href="#coq10-def.Principal_Clinical_Manifestati">principal clinical manifestations</a> of primary CoQ<sub>10</sub> deficiency (regardless of genetic cause) are summarized below [<a class="bibr" href="#coq10-def.REF.desbats.2015a.145" rid="coq10-def.REF.desbats.2015a.145">Desbats et al 2015a</a>], and followed by a summary of the <a href="#coq10-def.Phenotypes_of_COQ2_COQ8A_and_C">phenotypes of <i>COQ2-</i>, <i>COQ8A</i>-, and <i>COQ8B</i>-related CoQ<sub>10</sub> deficiencies</a>, the four most common causes of primary CoQ<sub>10</sub> deficiency.</p><div id="coq10-def.Principal_Clinical_Manifestati"><h4>Principal Clinical Manifestations</h4><p><b>Neurologic.</b> Central nervous system (CNS) manifestations include encephalopathy (a wide spectrum of brain involvement with different clinical and neuroradiologic features often not further specified). In some individuals encephalopathy is associated with findings on neuroimaging resembling <a href="/books/n/gene/narp/?report=reader">Leigh syndrome</a> [<a class="bibr" href="#coq10-def.REF.l_pez.2006.1125" rid="coq10-def.REF.l_pez.2006.1125">López et al 2006</a>] or <a href="/books/n/gene/melas/?report=reader">MELAS</a> (with stroke-like episodes) [<a class="bibr" href="#coq10-def.REF.salviati.2005.606" rid="coq10-def.REF.salviati.2005.606">Salviati et al 2005</a>]. CNS manifestations often include seizures, dystonia, spasticity, and/or intellectual disability [<a class="bibr" href="#coq10-def.REF.l_pez.2006.1125" rid="coq10-def.REF.l_pez.2006.1125">López et al 2006</a>, <a class="bibr" href="#coq10-def.REF.mollet.2007.765" rid="coq10-def.REF.mollet.2007.765">Mollet et al 2007</a>, <a class="bibr" href="#coq10-def.REF.heeringa.2011.2013" rid="coq10-def.REF.heeringa.2011.2013">Heeringa et al 2011</a>].</p><p>The age of onset and clinical severity range from fatal neonatal encephalopathy with hypotonia [<a class="bibr" href="#coq10-def.REF.mollet.2007.765" rid="coq10-def.REF.mollet.2007.765">Mollet et al 2007</a>, <a class="bibr" href="#coq10-def.REF.jakobs.2013.24" rid="coq10-def.REF.jakobs.2013.24">Jakobs et al 2013</a>] to a late-onset, slowly progressive multiple system atrophy (MSA)-like phenotype, a neurodegenerative disorder characterized by autonomic failure associated with various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. This clinical picture resembling MSA with onset in the seventh decade was reported in two multiplex families with <i>COQ2</i>-related CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.mitsui.2013.233" rid="coq10-def.REF.mitsui.2013.233">Mitsui et al 2013</a>].</p><p>Individuals with <i>COQ8A</i>-related CoQ<sub>10</sub> deficiency display progressive cerebellar atrophy and ataxia with intellectual disability and seizures [<a class="bibr" href="#coq10-def.REF.lagiertourenne.2008.661" rid="coq10-def.REF.lagiertourenne.2008.661">Lagier-Tourenne et al 2008</a>, <a class="bibr" href="#coq10-def.REF.mollet.2008.623" rid="coq10-def.REF.mollet.2008.623">Mollet et al 2008</a>]. Ataxia has also been reported in individuals with <i>COQ4-</i>related CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.bosch.2018.19" rid="coq10-def.REF.bosch.2018.19">Bosch et al 2018</a>, <a class="bibr" href="#coq10-def.REF.mero.2021.3381" rid="coq10-def.REF.mero.2021.3381">Mero et al 2021</a>, <a class="bibr" href="#coq10-def.REF.cordts.2022.2147" rid="coq10-def.REF.cordts.2022.2147">Cordts et al 2022</a>].</p><p>Distal motor neuropathy has been reported in several individuals with <i>COQ7</i>-related CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.jacquier.2023.3470" rid="coq10-def.REF.jacquier.2023.3470">Jacquier et al 2023</a>, <a class="bibr" href="#coq10-def.REF.liu.2023.e27" rid="coq10-def.REF.liu.2023.e27">Liu et al 2023</a>]. Peripheral neuropathy has been reported in two sibs with <i>PDSS1</i>-related CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.mollet.2007.765" rid="coq10-def.REF.mollet.2007.765">Mollet et al 2007</a>].</p><p>Given the small number of affected individuals described to date, clinical data are insufficient to make any generalizations about other neurologic manifestations (e.g., dystonia, spasticity, seizures, intellectual disability).</p><p><b>Renal.</b>
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<a href="/books/n/gene/srns-ov/?report=reader">Steroid-resistant nephrotic syndrome</a> (SRNS), an unusual feature of mitochondrial disorders, is a hallmark of primary CoQ<sub>10</sub> deficiency. If not treated with supplementation of high-dose oral CoQ<sub>10</sub> (see <a href="#coq10-def.Management">Management</a>), SRNS usually progresses to end-stage kidney disease (ESKD). SRNS has been reported in association with variants in <i>PDSS1</i>, <i>PDSS2</i>, <i>COQ2</i>, <i>COQ6</i>, and <i>COQ8B</i> [<a class="bibr" href="#coq10-def.REF.acosta.2016.1079" rid="coq10-def.REF.acosta.2016.1079">Acosta et al 2016</a>]. To date, SRNS has not been reported in association with variants in <i>COQ4</i>, <i>COQ8A</i>, and <i>COQ9</i> (including the mouse model).</p><p>Renal involvement usually manifests as proteinuria in infancy. Affected individuals often present initially with SRNS that leads to ESKD, followed by an encephalomyopathy with seizures and stroke-like episodes resulting in severe neurologic impairment and ultimately death [<a class="bibr" href="#coq10-def.REF.r_tig.2000.391" rid="coq10-def.REF.r_tig.2000.391">Rötig et al 2000</a>, <a class="bibr" href="#coq10-def.REF.salviati.2005.606" rid="coq10-def.REF.salviati.2005.606">Salviati et al 2005</a>, <a class="bibr" href="#coq10-def.REF.heeringa.2011.2013" rid="coq10-def.REF.heeringa.2011.2013">Heeringa et al 2011</a>].</p><p>Some affected individuals manifest only SRNS with onset in the first or second decade of life and slow progression to ESKD without extrarenal manifestations [<a class="bibr" href="#coq10-def.REF.gigante.2017.224" rid="coq10-def.REF.gigante.2017.224">Gigante et al 2017</a>].</p><p>One of the two individuals in a family with <i>COQ9</i>-related CoQ<sub>10</sub> deficiency manifested tubulopathy within a few hours after birth.</p><p><b>Cardiac.</b> Hypertrophic cardiomyopathy (HCM) has been reported in:</p><ul><li class="half_rhythm"><div>Neonatal-onset <i>COQ2</i>-related CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.scalais.2013.625" rid="coq10-def.REF.scalais.2013.625">Scalais et al 2013</a>];</div></li><li class="half_rhythm"><div><i>COQ4</i>-related CoQ<sub>10</sub> deficiency manifesting as prenatal-onset HCM [<a class="bibr" href="#coq10-def.REF.breacalvo.2015.309" rid="coq10-def.REF.breacalvo.2015.309">Brea-Calvo et al 2015</a>];</div></li><li class="half_rhythm"><div><i>COQ9</i>-related CoQ<sub>10</sub> deficiency manifesting as neonatal-onset lactic acidosis followed by a multisystem disease that included HCM [<a class="bibr" href="#coq10-def.REF.duncan.2009.558" rid="coq10-def.REF.duncan.2009.558">Duncan et al 2009</a>]. The cardiac disease worsened despite treatment with CoQ<sub>10</sub>.</div></li></ul><p><b>Ophthalmologic.</b> Retinopathy, sometimes as an isolated manifestation in adults, has been reported in association with variants in <i>PDSS1</i>, <i>COQ2</i>, <i>COQ4</i>, and <i>COQ5</i> [<a class="bibr" href="#coq10-def.REF.desbats.2016.4256" rid="coq10-def.REF.desbats.2016.4256">Desbats et al 2016</a>, <a class="bibr" href="#coq10-def.REF.jurkute.2022.60" rid="coq10-def.REF.jurkute.2022.60">Jurkute et al 2022</a>].</p><p>Optic atrophy has been reported in some individuals with <i>PDSS1</i>-related CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.mollet.2007.765" rid="coq10-def.REF.mollet.2007.765">Mollet et al 2007</a>], <i>PDSS2</i>-related CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.r_tig.2000.391" rid="coq10-def.REF.r_tig.2000.391">Rötig et al 2000</a>], and <i>COQ2</i>-related CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.stallworth.2023.486" rid="coq10-def.REF.stallworth.2023.486">Stallworth et al 2023</a>].</p><p><b>Sensorineural hearing loss,</b> which is common in individuals with <i>COQ6</i>-related CoQ<sub>10</sub> deficiency, is also observed in some individuals with <i>COQ2</i>-related CoQ<sub>10</sub> [<a class="bibr" href="#coq10-def.REF.drovandi.2022b.592" rid="coq10-def.REF.drovandi.2022b.592">Drovandi et al 2022b</a>] and <i>PDSS1</i>-related CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.nardecchia.2021.247" rid="coq10-def.REF.nardecchia.2021.247">Nardecchia et al 2021</a>].</p><p><b>Muscle</b>
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<b>findings</b> include weakness and exercise intolerance. Muscle biopsy may show nonspecific signs of lipid accumulation and mitochondrial proliferation [<a class="bibr" href="#coq10-def.REF.trevisson.2011.449" rid="coq10-def.REF.trevisson.2011.449">Trevisson et al 2011</a>, <a class="bibr" href="#coq10-def.REF.desbats.2015b.1254" rid="coq10-def.REF.desbats.2015b.1254">Desbats et al 2015b</a>]. Muscle involvement in primary CoQ<sub>10</sub> deficiency is virtually always accompanied by extramuscular manifestations.</p><p><b>Prognosis.</b> Data on the prognosis of primary CoQ<sub>10</sub> deficiency are limited due to the small number of affected individuals reported to date. It is a progressive disorder, with variable rates of progression and tissue involvement depending on the gene involved and the severity of the CoQ<sub>10</sub> deficiency.</p><p>Children with severe multisystem CoQ<sub>10</sub> deficiency respond poorly to treatment and generally die within the neonatal period or in the first year of life.</p><p>Individuals with later-onset disease show better response to supplementation with high-dose oral CoQ<sub>10</sub>. In many instances treatment can change the natural history of the disease by blocking progression of the kidney disease and preventing the onset of neurologic manifestations in persons with biallelic pathogenic variants in <i>COQ2</i>, <i>COQ6</i>, <i>COQ8B</i>, or <i>PDSS2</i> [<a class="bibr" href="#coq10-def.REF.montini.2008.2849" rid="coq10-def.REF.montini.2008.2849">Montini et al 2008</a>; <a class="bibr" href="#coq10-def.REF.heeringa.2011.2013" rid="coq10-def.REF.heeringa.2011.2013">Heeringa et al 2011</a>; <a class="bibr" href="#coq10-def.REF.ashraf.2013.5179" rid="coq10-def.REF.ashraf.2013.5179">Ashraf et al 2013</a>; Authors, personal communication]. See <a href="#coq10-def.Pharmacologic_Treatment">Pharmacologic Treatment</a>.</p></div><div id="coq10-def.Phenotypes_of_COQ2_COQ8A_and_C"><h4>Phenotypes of <i>COQ2-</i>, <i>COQ8A-</i>, and <i>COQ8B-</i>Related Coenzyme Q<sub>10</sub> Deficiencies</h4><p><b><i>COQ2</i>.</b> The findings in affected individuals from the ten families described to date differ in severity and age of onset [<a class="bibr" href="#coq10-def.REF.mollet.2007.765" rid="coq10-def.REF.mollet.2007.765">Mollet et al 2007</a>, <a class="bibr" href="#coq10-def.REF.diomedicamassei.2007.2773" rid="coq10-def.REF.diomedicamassei.2007.2773">Diomedi-Camassei et al 2007</a>, <a class="bibr" href="#coq10-def.REF.dinwiddie.2013.148" rid="coq10-def.REF.dinwiddie.2013.148">Dinwiddie et al 2013</a>, <a class="bibr" href="#coq10-def.REF.jakobs.2013.24" rid="coq10-def.REF.jakobs.2013.24">Jakobs et al 2013</a>, <a class="bibr" href="#coq10-def.REF.mccarthy.2013.637" rid="coq10-def.REF.mccarthy.2013.637">McCarthy et al 2013</a>, <a class="bibr" href="#coq10-def.REF.mitsui.2013.233" rid="coq10-def.REF.mitsui.2013.233">Mitsui et al 2013</a>, <a class="bibr" href="#coq10-def.REF.scalais.2013.625" rid="coq10-def.REF.scalais.2013.625">Scalais et al 2013</a>, <a class="bibr" href="#coq10-def.REF.desbats.2015b.1254" rid="coq10-def.REF.desbats.2015b.1254">Desbats et al 2015b</a>, <a class="bibr" href="#coq10-def.REF.desbats.2016.4256" rid="coq10-def.REF.desbats.2016.4256">Desbats et al 2016</a>].</p><p>The main clinical features include SRNS, which can be:</p><ul><li class="half_rhythm"><div>Isolated [ <a class="bibr" href="#coq10-def.REF.diomedicamassei.2007.2773" rid="coq10-def.REF.diomedicamassei.2007.2773">Diomedi-Camassei et al 2007</a>, <a class="bibr" href="#coq10-def.REF.mccarthy.2013.637" rid="coq10-def.REF.mccarthy.2013.637">McCarthy et al 2013</a>, <a class="bibr" href="#coq10-def.REF.gigante.2017.224" rid="coq10-def.REF.gigante.2017.224">Gigante et al 2017</a>];</div></li><li class="half_rhythm"><div>Associated with encephalomyopathy [<a class="bibr" href="#coq10-def.REF.salviati.2005.606" rid="coq10-def.REF.salviati.2005.606">Salviati et al 2005</a>] or severe multiple system disease [<a class="bibr" href="#coq10-def.REF.diomedicamassei.2007.2773" rid="coq10-def.REF.diomedicamassei.2007.2773">Diomedi-Camassei et al 2007</a>, <a class="bibr" href="#coq10-def.REF.mollet.2007.765" rid="coq10-def.REF.mollet.2007.765">Mollet et al 2007</a>, <a class="bibr" href="#coq10-def.REF.jakobs.2013.24" rid="coq10-def.REF.jakobs.2013.24">Jakobs et al 2013</a>].</div></li></ul><p>Adult-onset retinitis pigmentosa can be an isolated manifestation or can be associated with late-onset multiple system atrophy [<a class="bibr" href="#coq10-def.REF.mitsui.2013.233" rid="coq10-def.REF.mitsui.2013.233">Mitsui et al 2013</a>, <a class="bibr" href="#coq10-def.REF.desbats.2016.4256" rid="coq10-def.REF.desbats.2016.4256">Desbats et al 2016</a>].</p><p><b><i>COQ8A.</i></b> Affected individuals experience onset of muscle weakness and reduced exercise tolerance between ages 18 months and three years, followed by cerebellar ataxia (the predominant clinical feature) with severe cerebellar atrophy on MRI. The disease course varies, including both progressive and apparently self-limited ataxia. The ataxia may be:</p><ul><li class="half_rhythm"><div>Isolated [<a class="bibr" href="#coq10-def.REF.lagiertourenne.2008.661" rid="coq10-def.REF.lagiertourenne.2008.661">Lagier-Tourenne et al 2008</a>];</div></li><li class="half_rhythm"><div>Progressive with cerebellar atrophy in addition to intellectual disability, epilepsy, stroke-like episodes, and/or exercise intolerance [<a class="bibr" href="#coq10-def.REF.aur_.2004.727" rid="coq10-def.REF.aur_.2004.727">Auré et al 2004</a>, <a class="bibr" href="#coq10-def.REF.lagiertourenne.2008.661" rid="coq10-def.REF.lagiertourenne.2008.661">Lagier-Tourenne et al 2008</a>, <a class="bibr" href="#coq10-def.REF.mollet.2008.623" rid="coq10-def.REF.mollet.2008.623">Mollet et al 2008</a>, <a class="bibr" href="#coq10-def.REF.terracciano.2012.248" rid="coq10-def.REF.terracciano.2012.248">Terracciano et al 2012</a>].</div></li></ul><p><b><i>COQ8B</i>.</b> Affected individuals generally manifest SRNS in the first and second decade, and frequently evolve to end-stage kidney disease [<a class="bibr" href="#coq10-def.REF.ashraf.2013.5179" rid="coq10-def.REF.ashraf.2013.5179">Ashraf et al 2013</a>, <a class="bibr" href="#coq10-def.REF.korkmaz.2016.63" rid="coq10-def.REF.korkmaz.2016.63">Korkmaz et al 2016</a>]. In addition, four affected individuals were reported with mild intellectual disability, two with occasional seizures, and one with retinitis pigmentosa.</p></div></div><div id="coq10-def.Laboratory_Findings"><h3>Laboratory Findings</h3><p><b>Serum or plasma lactate concentration</b> may be high in those individuals with severe neonatal onset. Of note, normal lactate levels do not exclude the possibility of primary CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.rahman.2012.76" rid="coq10-def.REF.rahman.2012.76">Rahman et al 2012</a>].</p><p><b>Cerebrospinal fluid lactate concentration</b> may be more sensitive than serum or plasma levels but can be normal.</p></div></div><div id="coq10-def.Genetic_Causes_of_Primary_Coen"><h2 id="_coq10-def_Genetic_Causes_of_Primary_Coen_">2. Genetic Causes of Primary Coenzyme Q<sub>10</sub> Deficiency</h2><p><a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie/?report=objectonly" target="object" rid-ob="figobcoq10defTprimarycoenzymeq10deficie">Table 1</a> lists the ten genes known to cause primary coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) deficiency. Note that while other genes are likely to cause primary CoQ<sub>10</sub> deficiency, they have yet to be identified.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figcoq10defTprimarycoenzymeq10deficie"><a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobcoq10defTprimarycoenzymeq10deficie"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="coq10-def.T.primary_coenzyme_q10_deficie"><a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie/?report=objectonly" target="object" rid-ob="figobcoq10defTprimarycoenzymeq10deficie">Table 1. </a></h4><p class="float-caption no_bottom_margin">Primary Coenzyme Q<sub>10</sub> Deficiency: Genes and Associated Clinical Features </p></div></div></div><div id="coq10-def.Differential_Diagnosis_of_Prim"><h2 id="_coq10-def_Differential_Diagnosis_of_Prim_">3. Differential Diagnosis of Primary Coenzyme Q<sub>10</sub> Deficiency</h2><p>Note: It is important to consider primary coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) deficiency in individuals with the following diverse presentations because primary CoQ<sub>10</sub> deficiency is potentially treatable by supplementation with high-dose oral CoQ<sub>10</sub>:</p><ul><li class="half_rhythm"><div><b>Mitochondrial encephalomyopathies.</b> The clinical manifestations of mitochondrial encephalomyopathies and primary CoQ<sub>10</sub> deficiency can often be indistinguishable, especially in the severe phenotypes. See <a href="/books/n/gene/mt-overview/?report=reader">Primary Mitochondrial Disorders Overview.</a></div></li><li class="half_rhythm"><div><b>Steroid-resistant nephrotic syndrome (SRNS)</b> that results from pathogenic variants in other genes important for podocyte function and is clinically indistinguishable from the SRNS resulting from primary CoQ<sub>10</sub> deficiency. See <a href="/books/n/gene/srns-ov/?report=reader">Genetic Steroid-Resistant Nephrotic Syndrome Overview</a>.</div></li><li class="half_rhythm"><div><b>Early-onset ataxia.</b> See <a href="/books/n/gene/ataxias/?report=reader">Hereditary Ataxia Overview</a>.</div></li><li class="half_rhythm"><div><b>Retinitis pigmentosa</b> and <b>optic atrophy.</b> See <a href="/books/n/gene/rp-overview/?report=reader">Nonsyndromic Retinitis Pigmentosa Overview.</a></div></li></ul><p><b>Secondary CoQ<sub>10</sub> deficiencies</b> are disorders in which reduction in CoQ<sub>10</sub> levels are caused by pathogenic variants in genes not directly related to CoQ<sub>10</sub> biosynthesis [<a class="bibr" href="#coq10-def.REF.trevisson.2011.449" rid="coq10-def.REF.trevisson.2011.449">Trevisson et al 2011</a>]. Molecular genetic testing is the only way to distinguish primary CoQ<sub>10</sub> deficiency from the secondary CoQ<sub>10</sub> deficiencies. Some causes of secondary CoQ<sub>10</sub> deficiency are respiratory chain defects (see <a href="/books/n/gene/mt-overview/?report=reader">Primary Mitochondrial Disorders Overview</a>), <a href="/books/n/gene/madd/?report=reader">multiple acyl-CoA dehydrogenase deficiency</a>, and ataxia with oculomotor apraxia type 1 (OMIM <a href="https://omim.org/entry/208920" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">208920</a>).</p></div><div id="coq10-def.Evaluation_Strategies_to_Ident"><h2 id="_coq10-def_Evaluation_Strategies_to_Ident_">4. Evaluation Strategies to Identify the Genetic Cause of Primary Coenzyme Q<sub>10</sub> Deficiency in a Proband</h2><p>Establishing a specific genetic cause of primary coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) deficiency:</p><ul><li class="half_rhythm"><div>Allows initiation of a specific treatment;</div></li><li class="half_rhythm"><div>Can aid in discussions of prognosis (which are beyond the scope of this <i>GeneReview</i>) and genetic counseling;</div></li><li class="half_rhythm"><div>Usually involves a medical history, physical examination, laboratory testing, family history, and genomic/genetic testing.</div></li></ul><p><b>Medical history.</b> Primary CoQ<sub>10</sub> deficiency should be suspected in all individuals with any of the clinical (and neuroradiologic) manifestations suggestive of a mitochondrial encephalomyopathy, with steroid-resistant nephrotic syndrome (especially when other neurologic manifestations are present), retinitis pigmentosa, and/or unexplained ataxia. It should also be considered in individuals with motor neuropathy without other clear causes.</p><p><b>Physical examination.</b> There are no pathognomonic clinical signs for primary CoQ<sub>10</sub> deficiency. A standard physical examination as well as a neurologic examination should be performed in all individuals.</p><p><b>Family history</b> is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis.</p><p>The diagnosis of primary CoQ<sub>10</sub> deficiency is usually established by <a href="#coq10-def.Molecular_Genetic_Testing">molecular genetic testing</a>; however, <a href="#coq10-def.Biochemical_Testing">biochemical testing</a> can be helpful in some circumstances.</p><div id="coq10-def.Molecular_Genetic_Testing"><h3>Molecular Genetic Testing</h3><p>Molecular genetic testing approaches can include a combination of <b>gene-targeted testing</b> (multigene panel) and <b>comprehensive</b>
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<b>genomic testing</b> (exome sequencing, genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved (see <a href="#coq10-def.Option_1">Option 1</a>), whereas comprehensive genomic testing does not (see <a href="#coq10-def.Option_2">Option 2</a>).</p><div id="coq10-def.Option_1"><h4>Option 1</h4><p><b>A multigene panel (such as for steroid-resistant nephrotic syndrome, mitochondrial disorders of nuclear origin, retinitis pigmentosa, ataxia, or peripheral neuropathy)</b> that includes the ten genes in <a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie/?report=objectonly" target="object" rid-ob="figobcoq10defTprimarycoenzymeq10deficie">Table 1</a> and other genes of interest (see <a href="#coq10-def.Differential_Diagnosis_of_Prim">Differential Diagnosis</a>) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.</p><p>For an introduction to multigene panels click <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels_FAQs">here</a>.</p></div><div id="coq10-def.Option_2"><h4>Option 2</h4><p><b>Comprehensive</b>
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<b>genomic testing</b> does not require the clinician to determine which gene is likely involved. Exome sequencing is most commonly used; genome sequencing is also possible.</p><p>For an introduction to comprehensive genomic testing click <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing_1">here</a>.</p></div></div><div id="coq10-def.Biochemical_Testing"><h3>Biochemical Testing</h3><p>In the past, biochemical testing was the primary method for diagnosing CoQ<sub>10</sub> deficiency; however, currently its use is limited to either establishing the diagnosis when it cannot be established by molecular genetic testing or confirming molecular genetic testing results (such as variants of uncertain significance). The following findings on biochemical testing can differentiate CoQ<sub>10</sub> deficiency from other mitochondrial disorders with similar clinical findings, but cannot differentiate primary from secondary CoQ<sub>10</sub> deficiency (see <a href="#coq10-def.Differential_Diagnosis_of_Prim">Differential Diagnosis</a>).</p><ul><li class="half_rhythm"><div class="half_rhythm">Reduced levels of CoQ<sub>10</sub> in skeletal muscle [<a class="bibr" href="#coq10-def.REF.montero.2008.697" rid="coq10-def.REF.montero.2008.697">Montero et al 2008</a>]</div><div class="half_rhythm">Note: While CoQ<sub>10</sub> measurements may be performed on cultured skin fibroblasts or blood mononuclear cells, these tissues may not be reliable in detecting secondary CoQ<sub>10</sub> defects [<a class="bibr" href="#coq10-def.REF.yubero.2015.1049" rid="coq10-def.REF.yubero.2015.1049">Yubero et al 2015</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">Reduced activities of complex I+III and II+III of the mitochondrial respiratory chain on frozen muscle homogenates</div><div class="half_rhythm">These enzymatic activities, which depend on endogenous CoQ<sub>10,</sub> are reduced in individuals with a defect in CoQ<sub>10</sub> even when isolated complex II and III respiratory chain activities are normal [<a class="bibr" href="#coq10-def.REF.rahman.2012.76" rid="coq10-def.REF.rahman.2012.76">Rahman et al 2012</a>].</div></li></ul><p>Plasma CoQ<sub>10</sub> levels are not useful for the diagnosis of primary CoQ<sub>10</sub> deficiency because they reflect dietary intake rather than endogenous CoQ<sub>10</sub> production [<a class="bibr" href="#coq10-def.REF.trevisson.2011.449" rid="coq10-def.REF.trevisson.2011.449">Trevisson et al 2011</a>]. Moreover, there are individuals with genetically proven CoQ<sub>10</sub> deficiency who had normal CoQ<sub>10</sub> levels in both muscle and cultured skin fibroblasts [<a class="bibr" href="#coq10-def.REF.mero.2021.3381" rid="coq10-def.REF.mero.2021.3381">Mero et al 2021</a>]; therefore, a normal result does not rule out the diagnosis. For these reasons, and due to the scarcity of laboratories that can perform CoQ<sub>10</sub> measurements in tissues on a routine basis, biochemical testing has been largely abandoned as a first-line diagnostic tool.</p></div></div><div id="coq10-def.Management"><h2 id="_coq10-def_Management_">5. Management</h2><p>No clinical practice guidelines for management of primary coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) deficiency have been published.</p><div id="coq10-def.Evaluations_Following_Initial"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with primary CoQ<sub>10</sub> deficiency, the evaluations summarized in <a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie_1/?report=objectonly" target="object" rid-ob="figobcoq10defTprimarycoenzymeq10deficie1">Table 2</a> (if not performed as part of the evaluation that led to the diagnosis) are recommended.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figcoq10defTprimarycoenzymeq10deficie1"><a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie_1/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobcoq10defTprimarycoenzymeq10deficie1"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="coq10-def.T.primary_coenzyme_q10_deficie_1"><a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie_1/?report=objectonly" target="object" rid-ob="figobcoq10defTprimarycoenzymeq10deficie1">Table 2. </a></h4><p class="float-caption no_bottom_margin">Primary Coenzyme Q<sub>10</sub> Deficiency: Recommended Evaluations Following Initial Diagnosis </p></div></div></div><div id="coq10-def.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>There is no cure for primary CoQ<sub>10</sub> deficiency.</p><div id="coq10-def.Pharmacologic_Treatment"><h4>Pharmacologic Treatment</h4><p><b>Coenzyme Q<sub>10</sub> supplementation.</b> Individuals with primary CoQ<sub>10</sub> deficiency may respond well to high-dose oral CoQ<sub>10</sub> supplementation (ranging from 5 to 50 mg/kg/day). Soluble formulations are apparently more bioavailable [<a class="bibr" href="#coq10-def.REF.desbats.2015a.145" rid="coq10-def.REF.desbats.2015a.145">Desbats et al 2015a</a>].</p><p>Treatment should be instituted as early as possible because it can limit disease progression and reverse some manifestations [<a class="bibr" href="#coq10-def.REF.montini.2008.2849" rid="coq10-def.REF.montini.2008.2849">Montini et al 2008</a>]; however, established severe neurologic and/or renal damage cannot be reversed.</p><p>Response is highly variable, and depends on both the specific genetic defect and disease severity, but also other unknown factors.</p><ul><li class="half_rhythm"><div><b><i>COQ2-</i>related CoQ<sub>10</sub> deficiency.</b> Response was poor in individuals with severe forms with onset in the first months of life, while both neurologic manifestations and SRNS responded well to CoQ<sub>10</sub> supplementation in individuals with later-onset disease. The response apparently correlates with severity of the <i>COQ2</i> variants [<a class="bibr" href="#coq10-def.REF.desbats.2016.4256" rid="coq10-def.REF.desbats.2016.4256">Desbats et al 2016</a>].</div></li><li class="half_rhythm"><div><b><i>COQ4-</i>related CoQ<sub>10</sub> deficiency.</b> No response was observed in individuals reported by <a class="bibr" href="#coq10-def.REF.chung.2015.627" rid="coq10-def.REF.chung.2015.627">Chung et al [2015]</a> and in five individuals reported by <a class="bibr" href="#coq10-def.REF.yu.2019.18" rid="coq10-def.REF.yu.2019.18">Yu et al [2019]</a>. Partial response was seen in one of the two individuals with ataxia reported by <a class="bibr" href="#coq10-def.REF.mero.2021.3381" rid="coq10-def.REF.mero.2021.3381">Mero et al [2021]</a>, in the individual reported by <a class="bibr" href="#coq10-def.REF.caglayan.2019.665" rid="coq10-def.REF.caglayan.2019.665">Caglayan et al [2019]</a>, and in four individuals reported by <a class="bibr" href="#coq10-def.REF.yu.2019.18" rid="coq10-def.REF.yu.2019.18">Yu et al [2019]</a>. Among the individuals reported by <a class="bibr" href="#coq10-def.REF.yu.2019.18" rid="coq10-def.REF.yu.2019.18">Yu et al [2019]</a>, those who did not respond to treatment had one null variant, while those who responded to supplementation with high-dose oral CoQ<sub>10</sub> had two missense variants.</div></li><li class="half_rhythm"><div><b><i>COQ6</i>-related CoQ<sub>10</sub> deficiency.</b> Homozygotes for the pathogenic variants p.Gly255Arg or p.Ala353Asp responded well [<a class="bibr" href="#coq10-def.REF.heeringa.2011.2013" rid="coq10-def.REF.heeringa.2011.2013">Heeringa et al 2011</a>].</div></li><li class="half_rhythm"><div><b><i>COQ8B</i>-related CoQ<sub>10</sub> deficiency.</b> An individual homozygous for a truncating pathogenic variant responded to supplementation with high-dose oral CoQ<sub>10</sub> with resolution of edema and significant improvement of proteinuria [<a class="bibr" href="#coq10-def.REF.ashraf.2013.5179" rid="coq10-def.REF.ashraf.2013.5179">Ashraf et al 2013</a>].</div></li><li class="half_rhythm"><div><b><i>PDSS2</i>-related CoQ<sub>10</sub> deficiency.</b> Individuals with severe neonatal-onset disease responded poorly to supplementation with high-dose oral CoQ<sub>10</sub> supplementation, whereas those with later-onset disease responded better [<a class="bibr" href="#coq10-def.REF.r_tig.2000.391" rid="coq10-def.REF.r_tig.2000.391">Rötig et al 2000</a>; Authors, personal observation]. Of note, CoQ<sub>10</sub> supplementation is effective in the mouse model of <i>PDSS2</i>-related CoQ<sub>10</sub> deficiency.</div></li><li class="half_rhythm"><div><b><i>COQ8A</i>-related CoQ<sub>10</sub> deficiency.</b> While most affected individuals respond poorly to high-dose oral CoQ<sub>10</sub> supplementation, three individuals had a favorable response: one had objective stabilization of ataxia [<a class="bibr" href="#coq10-def.REF.lagiertourenne.2008.661" rid="coq10-def.REF.lagiertourenne.2008.661">Lagier-Tourenne et al 2008</a>]; one had a dramatic and long-lasting improvement of dystonia and myoclonus after six months of treatment; and one individual's tremor and drawing ability improved [<a class="bibr" href="#coq10-def.REF.mignot.2013.173" rid="coq10-def.REF.mignot.2013.173">Mignot et al 2013</a>].</div></li></ul><p>A recent study that investigated the effect of supplementation with high-dose oral CoQ<sub>10</sub> on renal manifestations [<a class="bibr" href="#coq10-def.REF.drovandi.2022a.604" rid="coq10-def.REF.drovandi.2022a.604">Drovandi et al 2022a</a>] reported that the best response was observed in individuals with <i>COQ6</i>-related CoQ<sub>10</sub> deficiency.</p><p>Data for response to high-dose oral CoQ<sub>10</sub> supplementation in individuals with primary CoQ<sub>10</sub> deficiency caused by variants in other genes are limited or lacking.</p><p><b>Ineffective treatments or those without validated effects</b> for individuals with primary CoQ<sub>10</sub> deficiency include the following CoQ<sub>10</sub> derivatives:</p><ul><li class="half_rhythm"><div>Ubiquinol, the reduced form of CoQ<sub>10</sub>. Although this has recently become commercially available, data on the therapeutic dosage and its efficacy are still lacking.</div></li><li class="half_rhythm"><div>Short-chain quinone analogs such as idebenone [<a class="bibr" href="#coq10-def.REF.r_tig.2000.391" rid="coq10-def.REF.r_tig.2000.391">Rötig et al 2000</a>, <a class="bibr" href="#coq10-def.REF.l_pez.2010.e11897" rid="coq10-def.REF.l_pez.2010.e11897">López et al 2010</a>] have been reported to cause clinical deterioration in individuals with CoQ<sub>10</sub> deficiency [<a class="bibr" href="#coq10-def.REF.hargreaves.2014.105" rid="coq10-def.REF.hargreaves.2014.105">Hargreaves 2014</a>].</div></li><li class="half_rhythm"><div>Bypass therapy with analogs of the quinone ring [<a class="bibr" href="#coq10-def.REF.pesini.2022.665" rid="coq10-def.REF.pesini.2022.665">Pesini et la 2022</a>] and the use of capsofungin to improve bioavailability of CoQ<sub>10</sub> [<a class="bibr" href="#coq10-def.REF.wang.2020.101680" rid="coq10-def.REF.wang.2020.101680">Wang & Hekimi 2020</a>] have been tested in cellular models and in mice, but no data are available in humans.</div></li></ul></div><div id="coq10-def.Supportive_Care"><h4>Supportive Care</h4><p>Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see <a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie_2/?report=objectonly" target="object" rid-ob="figobcoq10defTprimarycoenzymeq10deficie2">Table 3</a>).</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figcoq10defTprimarycoenzymeq10deficie2"><a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie_2/?report=objectonly" target="object" title="Table 3. " class="img_link icnblk_img" rid-ob="figobcoq10defTprimarycoenzymeq10deficie2"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="coq10-def.T.primary_coenzyme_q10_deficie_2"><a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie_2/?report=objectonly" target="object" rid-ob="figobcoq10defTprimarycoenzymeq10deficie2">Table 3. </a></h4><p class="float-caption no_bottom_margin">Primary Coenzyme Q<sub>10</sub> Deficiency: Treatment of Manifestations by Phenotype </p></div></div></div><div id="coq10-def.Developmental_Delay__Intellect"><h4>Developmental Delay / Intellectual Disability Management Issues</h4><p>The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.</p><p><b>Ages 0-3 years.</b> Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators, and sensory impairment specialists. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs.</p><p><b>Ages 3-5 years.</b> In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. The early intervention program typically assists with this transition. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided.</p><p><b>All ages.</b> Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. Some issues to consider:</p><ul><li class="half_rhythm"><div>IEP services:</div><ul><li class="half_rhythm"><div>An IEP provides specially designed instruction and related services to children who qualify.</div></li><li class="half_rhythm"><div>IEP services will be reviewed annually to determine whether any changes are needed.</div></li><li class="half_rhythm"><div>Special education law requires that children participating in an IEP be in the least restrictive environment feasible at school and included in general education as much as possible, when and where appropriate.</div></li><li class="half_rhythm"><div>Vision and hearing consultants should be a part of the child's IEP team to support access to academic material.</div></li><li class="half_rhythm"><div>PT, OT, and speech services will be provided in the IEP to the extent that the need affects the child's access to academic material. Beyond that, private supportive therapies based on the affected individual's needs may be considered. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.</div></li><li class="half_rhythm"><div>As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. For those receiving IEP services, the public school district is required to provide services until age 21.</div></li></ul></li><li class="half_rhythm"><div>A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text.</div></li><li class="half_rhythm"><div>Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a US public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.</div></li><li class="half_rhythm"><div>Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.</div></li></ul></div></div><div id="coq10-def.Surveillance"><h3>Surveillance</h3><p>While monitoring the existing manifestations of primary CoQ<sub>10</sub> deficiency, the individual's response to pharmacologic treatment and supportive care, and the emergence of new manifestations depends on the specific genetic cause and on the individual's clinical manifestations, it should always include periodic evaluations of the following:</p><ul><li class="half_rhythm"><div>In individuals with adult-onset neurologic findings and individuals with apparently isolated SRNS: assessment for evidence of autonomic dysfunction and movement disorders (parkinsonism, cerebellar ataxia, pyramidal signs) every one to two years</div></li><li class="half_rhythm"><div>Urine analysis for proteinuria and assessment of kidney function</div></li><li class="half_rhythm"><div>Ophthalmologic evaluation and electroretinogram for evidence of retinopathy and to determine need for low vison services</div></li><li class="half_rhythm"><div>Hearing evaluation with attention to possible sensorineural hearing loss</div></li></ul><p>Note: Because cardiomyopathy to date has been found only in the most severe phenotype (i.e., neonatal onset), cardiac evaluation should be performed at the time of diagnosis but not periodically unless cardiac involvement has been documented.</p></div><div id="coq10-def.Evaluation_of_Relatives_at_Ris"><h3>Evaluation of Relatives at Risk</h3><p>Given the importance of early CoQ<sub>10</sub> supplementation in persons with primary CoQ<sub>10</sub> deficiency, it is appropriate to evaluate the sibs of a proband who has primary CoQ<sub>10</sub> deficiency in order to identify as early as possible those sibs who would benefit from early initiation of treatment (see <a href="#coq10-def.Pharmacologic_Treatment">Pharmacologic Treatment</a>).</p><ul><li class="half_rhythm"><div>If the pathogenic variants in the family are known, molecular genetic testing can be used to clarify the genetic status of at-risk sibs.</div></li><li class="half_rhythm"><div>If the pathogenic variants in the family are not known and the diagnosis has been established by biochemical findings, one can consider measuring CoQ<sub>10</sub> levels in skin fibroblasts of at-risk sibs [<a class="bibr" href="#coq10-def.REF.desbats.2015b.1254" rid="coq10-def.REF.desbats.2015b.1254">Desbats et al 2015b</a>].</div></li></ul><p>See <a href="#coq10-def.Genetic_Counseling">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div></div><div id="coq10-def.Genetic_Counseling"><h2 id="_coq10-def_Genetic_Counseling_">6. Genetic Counseling</h2><p>
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<i>Genetic counseling is the process of providing individuals and families with
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information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
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make informed medical and personal decisions. The following section deals with genetic
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risk assessment and the use of family history and genetic testing to clarify genetic
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status for family members; it is not meant to address all personal, cultural, or
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ethical issues that may arise or to substitute for consultation with a genetics
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professional</i>. —ED.</p><div id="coq10-def.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Primary coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) deficiency is generally inherited in an autosomal recessive manner.</p><p>Primary CoQ<sub>10</sub> deficiency associated with a <i>de novo</i> contiguous gene deletion encompassing <i>COQ4</i> was reported in one individual [<a class="bibr" href="#coq10-def.REF.salviati.2012.187" rid="coq10-def.REF.salviati.2012.187">Salviati et al 2012</a>].</p></div><div id="coq10-def.Risk_to_Family_Members_Autosom"><h3>Risk to Family Members (Autosomal Recessive Inheritance)</h3><p>
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<b>Parents of a proband</b>
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</p><ul><li class="half_rhythm"><div>The parents of an individual with a confirmed molecular genetic diagnosis of primary CoQ<sub>10</sub> deficiency are presumed to be heterozygous for a <i>COQ2</i>, <i>COQ4</i>, <i>COQ5</i>, <i>COQ6</i>, <i>COQ7</i>, <i>COQ8A</i>, <i>COQ8B</i>, <i>COQ9</i>, <i>PDSS1</i>, or <i>PDSS2</i> pathogenic variant.</div></li><li class="half_rhythm"><div>If a molecular diagnosis has been established in the proband, molecular genetic testing is recommended for the parents of the proband to confirm that both parents are heterozygous for a primary CoQ<sub>10</sub> deficiency-related pathogenic variant and to allow reliable recurrence risk assessment. If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:</div><ul><li class="half_rhythm"><div>One of the pathogenic variants identified in the proband occurred as a <i>de novo</i> event in the proband or as a postzygotic <i>de novo</i> event in a mosaic parent [<a class="bibr" href="#coq10-def.REF.j_nsson.2017.519" rid="coq10-def.REF.j_nsson.2017.519">Jónsson et al 2017</a>].</div></li><li class="half_rhythm"><div>Uniparental isodisomy for the parental chromosome with the pathogenic variant resulted in homozygosity for the pathogenic variant in the proband.</div></li></ul></li><li class="half_rhythm"><div>Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.</div></li></ul><p>
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<b>Sibs of a proband</b>
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</p><ul><li class="half_rhythm"><div>If both parents are known to be heterozygous for a primary CoQ<sub>10</sub> deficiency-related pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.</div></li><li class="half_rhythm"><div>Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.</div></li></ul><p><b>Offspring of a proband.</b> The offspring of an individual with a confirmed molecular genetic diagnosis of primary CoQ<sub>10</sub> deficiency are obligate heterozygotes (i.e., carriers) for a primary CoQ<sub>10</sub> deficiency-related pathogenic variant.</p><p><b>Other family members.</b> Each sib of the parents of a proband with a confirmed molecular genetic diagnosis of primary CoQ<sub>10</sub> deficiency is at a 50% risk of being a carrier of a primary CoQ<sub>10</sub> deficiency-related pathogenic variant.</p></div><div id="coq10-def.Carrier_Detection"><h3>Carrier Detection</h3><p>Carrier testing for at-risk relatives requires prior identification of the primary CoQ<sub>10</sub> deficiency-related pathogenic variants in the family.</p></div><div id="coq10-def.Related_Genetic_Counseling_Iss"><h3>Related Genetic Counseling Issues</h3><p>See Management, <a href="#coq10-def.Evaluation_of_Relatives_at_Ris">Evaluation of Relatives at Risk</a> for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.</p><p><b>DNA banking.</b> Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism is unknown). For more information, see <a class="bibr" href="#coq10-def.REF.huang.2022.389" rid="coq10-def.REF.huang.2022.389">Huang et al [2022]</a>.</p></div><div id="coq10-def.Prenatal_Testing_and_Preimplan"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the primary CoQ<sub>10</sub> deficiency-related pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing for primary CoQ<sub>10</sub> deficiency are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="coq10-def.Resources"><h2 id="_coq10-def_Resources_">Resources</h2><p>
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<i>GeneReviews staff has selected the following disease-specific and/or umbrella
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support organizations and/or registries for the benefit of individuals with this disorder
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and their families. GeneReviews is not responsible for the information provided by other
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organizations. For information on selection criteria, click <a href="/books/n/gene/app4/?report=reader">here</a>.</i></p>
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<ul><li class="half_rhythm"><div>
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<b>MedlinePlus</b>
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</div><div>
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<a href="https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Primary coenzyme Q10 deficiency</a>
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</div></li></ul>
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</div><div id="coq10-def.Chapter_Notes"><h2 id="_coq10-def_Chapter_Notes_">Chapter Notes</h2><div id="coq10-def.Author_Notes"><h3>Author Notes</h3><p>Leonardo Salviati (<a href="mailto:dev@null" data-email="ti.dpinu@itaivlas.odranoel" class="oemail">ti.dpinu@itaivlas.odranoel</a>) and Eva Trevisson (<a href="mailto:dev@null" data-email="ti.dpinu@nossivert.ave" class="oemail">ti.dpinu@nossivert.ave</a>) are actively involved in clinical research regarding individuals with primary CoQ<sub>10</sub> deficiency. They would be happy to communicate with persons who have any questions regarding diagnosis of primary CoQ<sub>10</sub> deficiency or other considerations.</p><p>Leonardo Salviati and Eva Trevisson are also interested in hearing from clinicians treating families affected by primary CoQ<sub>10</sub> deficiency in whom no causative variant has been identified through molecular genetic testing of the genes known to be involved in this group of disorders.</p><p>Contact Drs Salviati and Trevisson to inquire about review of variants of uncertain significance in any of the genes listed in <a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie/?report=objectonly" target="object" rid-ob="figobcoq10defTprimarycoenzymeq10deficie">Table 1</a>.</p></div><div id="coq10-def.Acknowledgments"><h3>Acknowledgments</h3><p>This work is supported by Telethon Italy Grants GGP13222 and GGP14187, a grant from Fondazione CARIPARO, and University of Padova Grant CPDA123573/12 (to LS); Ministry of Health Grant GR-2009-1578914 (to ET); and grants from Fondazione IRP Città della Speranza (to LS and ET).</p></div><div id="coq10-def.Author_History"><h3>Author History</h3><p>Caterina Agosto, MD (2023-present) <br />Mara Doimo, PhD (2017-present) <br />Leonardo Salviati, MD, PhD (2017-present) <br />Eva Trevisson, MD, PhD (2017-present)<br />Placido Navas, PhD (2017-present)</p></div><div id="coq10-def.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>8 June 2023 (bp) Comprehensive update posted live; scope changed to overview</div></li><li class="half_rhythm"><div>26 January 2017 (bp) Review posted live</div></li><li class="half_rhythm"><div>20 February 2015 (ls) Original submission</div></li></ul></div></div><div id="coq10-def.References"><h2 id="_coq10-def_References_">References</h2><div id="coq10-def.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="coq10-def.REF.acosta.2016.1079">Acosta
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JF, Ogier de Baulny
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AM, Kamsteeg
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EJ, Rodenburg
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RJ, van Deutekom
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AW, Buis
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DR, Engelen
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JM. Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.
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TB, Karall
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[<a href="/pmc/articles/PMC4320255/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4320255</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25658047" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25658047</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="coq10-def.REF.caglayan.2019.665">Caglayan
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E, DiMauro
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[<a href="https://pubmed.ncbi.nlm.nih.gov/21844807" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21844807</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="coq10-def.REF.wang.2020.101680">Wang
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Y, Hekimi
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Micellization of coenzyme Q by the fungicide caspofungin allows for safe intravenous administration to reach extreme supraphysiological concentrations.
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Redox Biol.
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2020;36:101680.
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[<a href="/pmc/articles/PMC7451649/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7451649</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32810741" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32810741</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="coq10-def.REF.yu.2019.18">Yu
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MH, Tsang
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MH, Lai
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S, Ho
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MS, Tse
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B, Kwong
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AK, Chou
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KS, Fung
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JL, Lam
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J, Lee
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CW, Chung
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BH. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
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2019;4:18.
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[<a href="/pmc/articles/PMC6683205/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6683205</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31396399" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31396399</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="coq10-def.REF.yubero.2015.1049">Yubero
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D, Montero
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R, Armstrong
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J, Espinós
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C, Palau
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Molecular diagnosis of coenzyme Q(10) deficiency.
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2015;15:1049-59.
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[<a href="https://pubmed.ncbi.nlm.nih.gov/26144946" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26144946</span></a>]</div></p></li></ul></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK410087_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Leonardo Salviati</span>, MD, PhD<div class="affiliation small">Clinical Genetics Unit<br />Department of Women and Children's Health<br />University of Padova<br />Padua, Italy<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ti.dpinu@itaivlas.odranoel" class="oemail">ti.dpinu@itaivlas.odranoel</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Eva Trevisson</span>, MD, PhD<div class="affiliation small">Clinical Genetics Unit<br />Department of Women and Children's Health<br />University of Padova<br />Padua, Italy<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ti.dpinu@nossivert.ave" class="oemail">ti.dpinu@nossivert.ave</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Caterina Agosto</span>, MD<div class="affiliation small">Pediatric Pain and Palliative Care Service<br />Department of Women's and Children's Health<br />Padua University Hospital<br />Padua, Italy<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ti.otenev.dpoa@otsoga.aniretac" class="oemail">ti.otenev.dpoa@otsoga.aniretac</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Mara Doimo</span>, PhD<div class="affiliation small">Clinical Genetics Unit<br />Department of Women and Children's Health<br />University of Padova<br />Padua, Italy<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ti.dpinu@omiod.aram" class="oemail">ti.dpinu@omiod.aram</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Placido Navas</span>, PhD<div class="affiliation small">Centro Andaluz de Biología del Desarrollo<br />Universidad Pablo de Olavide<br />Sevilla, Spain<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="se.opu@savanp" class="oemail">se.opu@savanp</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">January 26, 2017</span>; Last Update: <span itemprop="dateModified">June 8, 2023</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Salviati L, Trevisson E, Agosto C, et al. Primary Coenzyme Q10 Deficiency Overview. 2017 Jan 26 [Updated 2023 Jun 8]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/glc/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/bgc/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobcoq10defTprimarycoenzymeq10deficie"><div id="coq10-def.T.primary_coenzyme_q10_deficie" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Primary Coenzyme Q<sub>10</sub> Deficiency: Genes and Associated Clinical Features</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__coq10-def.T.primary_coenzyme_q10_deficie_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" style="text-align:left;vertical-align:middle;"># of Families w/CoQ<sub>10</sub> Deficiency Attributed to Gene</th><th id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3" colspan="6" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Clinical Features</th></tr><tr><th headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3" id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Kidneys</th><th headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3" id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Heart</th><th headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3" id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Eyes</th><th headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3" id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hearing</th><th headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3" id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurologic</th><th headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3" id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Muscles</th></tr></thead><tbody><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>COQ2</i>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>10</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SRNS</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HCM</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Retinopathy, optic atrophy</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SNHL</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Encephalopathy, <sup>2</sup> seizures, other <sup>3</sup></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myopathy</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>COQ4</i>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>10</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Heart failure, HCM</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Retinopathy</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Encephalopathy, seizures, ataxia, other <sup>4</sup></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myopathy</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">COQ5 <sup>5</sup></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Retinopathy</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>COQ6</i>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>10</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SRNS <sup>6</sup></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SNHL</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Encephalopathy, seizures</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>COQ7</i>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>10</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Encephalopathy, ID, peripheral neuropathy</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Muscle weakness</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>COQ8A</i>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>10</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Encephalopathy, cerebellar ataxia (SCAR9), <sup>7</sup> dystonia, spasticity, seizures</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exercise intolerance</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>COQ8B</i>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>10</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SRNS <sup>6</sup></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ID, seizures</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>COQ9</i>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Tubulopathy</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HCM</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Encephalopathy</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myopathy</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>PDSS1</i>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">10</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SRNS</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Retinopathy, optic atrophy</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Encephalopathy, peripheral neuropathy, ataxia</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>PDSS2</i>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SRNS</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Retinopathy</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SNHL</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Leigh syndrome, ataxia</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_3 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_2_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">HCM = hypertrophic cardiomyopathy; ID = intellectual disability; SNHL = sensorineural hearing loss; SRNS = steroid-resistant nephrotic syndrome</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="coq10-def.TF.1.1"><p class="no_margin">Genes are listed in alphanumeric order.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="coq10-def.TF.1.2"><p class="no_margin">Encephalopathy comprises a wide spectrum of brain involvement with different clinical and neuroradiologic features, often not further explained by the reporting authors.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="coq10-def.TF.1.3"><p class="no_margin">Adult-onset multisystem atrophy-like phenotype [<a class="bibr" href="#coq10-def.REF.desbats.2016.4256" rid="coq10-def.REF.desbats.2016.4256">Desbats et al 2016</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="coq10-def.TF.1.4"><p class="no_margin">Severe hypotonia, respiratory insufficiency, cerebellar hypoplasia, slowly progressive neurologic deterioration, spasticity, and intellectual disability</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="coq10-def.TF.1.5"><p class="no_margin">The link between <i>COQ5</i> pathogenic variants and ataxia still needs confirmation.</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="coq10-def.TF.1.6"><p class="no_margin">Because individuals with <i>COQ6-</i> and <i>COQ8B-</i>related CoQ<sub>10</sub> deficiency were ascertained by the presence of SRNS, the authors cannot exclude the possibility that biallelic pathogenic variants in these two genes could also cause a broader phenotype.</p></div></dd></dl><dl class="bkr_refwrap"><dt>7. </dt><dd><div id="coq10-def.TF.1.7"><p class="no_margin"><i>COQ8A</i>-related CoQ<sub>10</sub> deficiency is also referred to as autosomal recessive spinocerebellar ataxia 9 or SCAR9 (OMIM <a href="https://omim.org/entry/612016" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">612016</a>).</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobcoq10defTprimarycoenzymeq10deficie1"><div id="coq10-def.T.primary_coenzyme_q10_deficie_1" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Primary Coenzyme Q<sub>10</sub> Deficiency: Recommended Evaluations Following Initial Diagnosis</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie_1/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__coq10-def.T.primary_coenzyme_q10_deficie_1_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Encephalopathy</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Assessment of functional neurologic status by pediatric neurologist</div></li><li class="half_rhythm"><div>Brain MRI</div></li></ul>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Check for neuroradiologic signs of <a href="/books/n/gene/narp/?report=reader">Leigh syndrome</a> or <a href="/books/n/gene/melas/?report=reader">MELAS</a>.</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Adult-onset neurologic complications</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess for evidence of autonomic dysfunction & movement disorders (parkinsonism, cerebellar ataxia, pyramidal signs).</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Neuromuscular</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Orthopedics / physical medicine & rehab / PT & OT eval</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To incl assessment of:
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<ul><li class="half_rhythm"><div>Gross motor & fine motor skills</div></li><li class="half_rhythm"><div>Contractures, clubfoot, & kyphoscoliosis</div></li><li class="half_rhythm"><div>Need for durable medical equipment &/or adaptive devices</div></li></ul>
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</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Developmental assessment</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>To incl motor, adaptive, cognitive, & speech-language eval</div></li><li class="half_rhythm"><div>Eval for early intervention / special education</div></li></ul>
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</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Intellectual disability</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Eval for educational placement</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Seizures</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">EEG</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Peripheral neuropathy</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess muscle strength & reflexes, & exercise tolerance.</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider performing EMG & nerve conduction studies in persons w/<i>COQ7</i>-related CoQ<sub>10</sub> deficiency</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Gastrointestinal/</b>
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<br />
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<b>Feeding</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gastroenterology / nutrition / feeding team eval</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>To incl eval for gastrointestinal dysmotility, aspiration risk, & nutritional status</div></li><li class="half_rhythm"><div>Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.</div></li></ul>
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</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Hearing loss</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Audiometry w/particular attention to possible SNHL</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Retinopathy</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmologic eval & electroretinogram in all persons</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Particular attention to:
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<ul><li class="half_rhythm"><div>Possible retinopathy & optic atrophy</div></li><li class="half_rhythm"><div>Possible need for low vision services</div></li></ul>
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</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Cardiac</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cardiac eval</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Incl echocardiography w/particular attention to possible HCM</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Steroid-resistant nephrotic syndrome</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Renal eval w/particular attention to presence of proteinuria, kidney function</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Ethics consultation</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Clinical ethics services</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess health care decisions in context of best interest of child & values & preferences of family</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Genetic counseling</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By genetics professionals <sup>1</sup></td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of primary CoQ<sub>10</sub> deficiency to facilitate medical & personal decision making</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Family support</b>
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<br />
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<b>& resources</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess need for:
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<ul><li class="half_rhythm"><div>Community or <a href="#coq10-def.Resources">online resources</a> such as <a href="https://www.p2pusa.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Parent to Parent</a>;</div></li><li class="half_rhythm"><div>Social work involvement for parental support;</div></li><li class="half_rhythm"><div>Home nursing referral.</div></li></ul>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">HCM = hypertrophic cardiomyopathy; MOI = mode of inheritance; SNHL = sensorineural hearing loss</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="coq10-def.TF.2.1"><p class="no_margin">Clinical geneticist, certified genetic counselor, certified genetic nurse, genetics advanced practice provider (nurse practitioner or physician assistant)</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobcoq10defTprimarycoenzymeq10deficie2"><div id="coq10-def.T.primary_coenzyme_q10_deficie_2" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Primary Coenzyme Q<sub>10</sub> Deficiency: Treatment of Manifestations by Phenotype</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK410087/table/coq10-def.T.primary_coenzyme_q10_deficie_2/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__coq10-def.T.primary_coenzyme_q10_deficie_2_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Manifestation/Concern</th><th id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment</th><th id="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Considerations/Other</th></tr></thead><tbody><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" colspan="3" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">
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<b>Fatal Neonatal Encephalopathy Phenotype</b>
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</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Nutrition/Feeding</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By feeding team incl nutritionist, gastroenterologist</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Nasogastric tube, gastrostomy tube</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Steroid-resistant nephrotic syndrome</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per treating nephrologist</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>See Steroid-Resistant Nephrotic Syndrome Overview, <a href="/books/n/gene/srns-ov/?report=reader#srns-ov.Management_of_Genetic_SteroidRes_">Management</a>.</div></li><li class="half_rhythm"><div>ACE inhibitors may be used in combination w/CoQ<sub>10</sub> supplementation in persons w/proteinuria. <sup>1</sup></div></li><li class="half_rhythm"><div>Kidney transplantation is an option for those w/ESKD. <sup>2</sup></div></li></ul>
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</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Respiratory insufficiency</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per treating pulmonologist</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">May incl consideration of tracheostomy & artificial ventilation</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Neuromuscular</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Physical therapy</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>To maintain muscle strength & mobility & prevent contractures</div></li><li class="half_rhythm"><div>Consider need for adaptive positioning devices.</div></li></ul>
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</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Seizures</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment w/ASM by experienced neurologist based on seizure semiology</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Certain ASMs require monitoring of medication levels.</div></li><li class="half_rhythm"><div>Education of parents/caregivers <sup>3</sup></div></li></ul>
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</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Sensorineural</b>
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<br />
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<b>hearing loss</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By hearing loss specialists</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See <a href="/books/n/gene/deafness-overview/?report=reader">Genetic Hearing Loss Overview</a>.</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Cardiomyopathy</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per standard treatment protocols</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Retinopathy</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per treating ophthalmologist & low vision services</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2 hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" colspan="3" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">
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<b>Other Neurologic Phenotypes</b>
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</td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Peripheral neuropathy</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See <a href="/books/n/gene/cmt/?report=reader">Charcot-Marie-Tooth Hereditary Neuropathy Overview</a>.</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Cerebellar ataxia</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See <a href="/books/n/gene/ataxias/?report=reader">Hereditary Ataxia Overview</a>.</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Dystonia</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">According to standard care</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Spasticity</b>
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</td><td headers="hd_h_coq10-def.T.primary_coenzyme_q10_deficie_2_1_1_1_3" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">ASM = anti-seizure medication</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="coq10-def.TF.3.1"><p class="no_margin">
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<a class="bibr" href="#coq10-def.REF.heeringa.2011.2013" rid="coq10-def.REF.heeringa.2011.2013">Heeringa et al [2011]</a>
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</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="coq10-def.TF.3.2"><p class="no_margin">
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<a class="bibr" href="#coq10-def.REF.salviati.2005.606" rid="coq10-def.REF.salviati.2005.606">Salviati et al [2005]</a>
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</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="coq10-def.TF.3.3"><p class="no_margin">Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see <a href="https://www.epilepsy.com/tools-resources/forms-resources#Epilepsy-Foundation-Toolbox" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Epilepsy Foundation Toolbox</a>.</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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