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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Isolated Sulfite Oxidase Deficiency - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_date" content="2017/09/21">
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<meta name="citation_author" content="Parayil Sankaran Bindu">
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<meta name="citation_author" content="Madhu Nagappa">
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<meta name="citation_author" content="Rose Dawn Bharath">
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<meta name="citation_author" content="Arun B Taly">
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<meta name="citation_keywords" content="Sulfocysteinuria">
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<meta name="citation_keywords" content="Sulfocysteinuria">
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<meta name="citation_keywords" content="Sulfite oxidase, mitochondrial">
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<meta name="citation_keywords" content="SUOX">
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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="_NBK453433_"><span class="title" itemprop="name">Isolated Sulfite Oxidase Deficiency</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonym: Sulfocysteinuria</div><p class="contribs">Bindu PS, Nagappa M, Bharath RD, et al.</p><p class="fm-aai"><a href="#_NBK453433_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 16 minutes</em></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="iso-def.Summary" itemprop="description"><h2 id="_iso-def_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p>The spectrum of isolated sulfite oxidase deficiency ranges from classic early-onset (severe) disease to late-onset (mild) disease.</p><ul><li class="half_rhythm"><div><i>Classic ISOD</i> is characterized in the first few hours to days of life by intractable seizures, feeding difficulties, and rapidly progressive encephalopathy manifest as abnormal tone (especially opisthotonus, spastic quadriplegia, and pyramidal signs) followed by progressive microcephaly and profound intellectual disability. Lens subluxation or dislocation, another characteristic finding, may be evident after the newborn period. Children usually die during the first few months of life.</div></li><li class="half_rhythm"><div><i>Late-onset ISOD</i> manifests between ages six and 18 months and is characterized by ectopia lentis (variably present), developmental delay/regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and (rarely) acute hemiplegia as a result of metabolic stroke. The clinical course may be progressive or episodic. In the episodic form encephalopathy, dystonia, choreoathetosis, and/or ataxia are intermittent.</div></li></ul></div><div><h4 class="inline">Diagnosis/testing.</h4><p>Laboratory findings that suggest the diagnosis of ISOD are dipstick positive for urinary sulfite, elevated urinary thiosulfate and S-sulfocysteine, low urinary organic sulfate, and markedly reduced plasma levels of total homocysteine. The diagnosis is confirmed by identification of biallelic pathogenic variants in <i>SUOX</i> by molecular genetic testing.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations:</i> No treatment exists for the underlying metabolic defect. Symptomatic treatment can include: anti-seizure medication (ASM) for seizures; medications to reduce spasticity; and early consideration of gastrostomy tube placement to manage difficulties with swallowing, assure adequate caloric intake, and reduce risk of aspiration. Other measures can include vigorous chest physiotherapy to prevent respiratory complications. Treatment of vomiting, gastroesophageal reflux, and aspiration pneumonia are per routine.</p><p><i>Surveillance:</i> Periodic assessment by a multidisciplinary team with particular attention to nutritional status, neurologic status (to evaluate dosages of ASMs and their side effects), and degree of spasticity and related complications.</p></div><div><h4 class="inline">Genetic counseling.</h4><p>ISOD is inherited in an autosomal recessive manner. The parents of an affected child are asymptomatic obligate heterozygotes (i.e., carriers of one <i>SUOX</i> pathogenic variant) and are not at risk of developing the disorder. Each sib of an affected individual has 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. Once the <i>SUOX</i> pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.</p></div></div><div id="iso-def.Diagnosis"><h2 id="_iso-def_Diagnosis_">Diagnosis</h2><div id="iso-def.Suggestive_Findings"><h3>Suggestive Findings</h3><p><b>Classic early-onset (severe) and late-onset (mild) isolated sulfite oxidase deficiency (ISOD)</b>
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<b>should be suspected</b> in infants with the following clinical, neuroimaging, and supportive laboratory findings.</p><div id="iso-def.Clinical_Features"><h4>Clinical Features</h4><p>
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<b>Classic ISOD</b>
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</p><ul><li class="half_rhythm"><div>Intractable seizures and feeding difficulties in the first few hours to days of life</div></li><li class="half_rhythm"><div>Progressive encephalopathy manifest as abnormal tone (especially opisthotonus, spastic quadriplegia, and pyramidal signs)</div></li><li class="half_rhythm"><div>Progressive microcephaly</div></li><li class="half_rhythm"><div>Profound intellectual disability</div></li><li class="half_rhythm"><div>Dysmorphic facial features: long face, narrow bifrontal diameter, deep and widely set eyes, elongated palpebral fissures, puffy cheeks, small nose, long philtrum, and thick lips (<a class="figpopup" href="/books/NBK453433/figure/iso-def.F1/?report=objectonly" target="object" rid-figpopup="figisodefF1" rid-ob="figobisodefF1">Figure 1</a>) [<a class="bibr" href="#iso-def.REF.salih.2013.109" rid="iso-def.REF.salih.2013.109">Salih et al 2013</a>, <a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>]</div></li><li class="half_rhythm"><div>Lens subluxation or dislocation (ectopia lentis) after the newborn period</div></li><li class="half_rhythm"><div>Family history consistent with autosomal recessive inheritance</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col fig" id="figisodefF1" co-legend-rid="figlgndisodefF1"><a href="/books/NBK453433/figure/iso-def.F1/?report=objectonly" target="object" title="Figure 1. " class="img_link icnblk_img figpopup" rid-figpopup="figisodefF1" rid-ob="figobisodefF1"><img class="small-thumb" src="/books/NBK453433/bin/iso-def-Image001.gif" src-large="/books/NBK453433/bin/iso-def-Image001.jpg" alt="Figure 1. " /></a><div class="icnblk_cntnt" id="figlgndisodefF1"><h4 id="iso-def.F1"><a href="/books/NBK453433/figure/iso-def.F1/?report=objectonly" target="object" rid-ob="figobisodefF1">Figure 1. </a></h4><p class="float-caption no_bottom_margin">Two males of Indian origin with classic isolated sulfite oxidase deficiency a. Male child age 14 months (head circumference 43 cm; <5th centile for age); note long philtrum and thick lips.</p></div></div><p>
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<b>Late-onset ISOD</b>
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</p><ul><li class="half_rhythm"><div>Onset usually between age six and 18 months, often precipitated by febrile illness</div></li><li class="half_rhythm"><div>Ectopia lentis (variably present)</div></li><li class="half_rhythm"><div>Developmental regression</div></li><li class="half_rhythm"><div>Episodic encephalopathy, ataxia, choreoathetosis, and dystonia</div></li><li class="half_rhythm"><div>Acute hemiparesis as a result of metabolic stroke</div></li></ul></div><div id="iso-def.Neuroimaging_Findings"><h4>Neuroimaging Findings</h4><p>
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<b>Classic ISOD</b>
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</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>Cranial MRI</b> resembles that of hypoxic-ischemic encephalopathy (<a class="figpopup" href="/books/NBK453433/figure/iso-def.F2/?report=objectonly" target="object" rid-figpopup="figisodefF2" rid-ob="figobisodefF2">Figure 2</a>) in the following manner [<a class="bibr" href="#iso-def.REF.rupar.1996.299" rid="iso-def.REF.rupar.1996.299">Rupar et al 1996</a>, <a class="bibr" href="#iso-def.REF.tan.2005.757" rid="iso-def.REF.tan.2005.757">Tan et al 2005</a>, <a class="bibr" href="#iso-def.REF.basheer.2007.38" rid="iso-def.REF.basheer.2007.38">Basheer et al 2007</a>, <a class="bibr" href="#iso-def.REF.sass.2010.544" rid="iso-def.REF.sass.2010.544">Sass et al 2010</a>, <a class="bibr" href="#iso-def.REF.bindu.2011.1036" rid="iso-def.REF.bindu.2011.1036">Bindu et al 2011</a>, <a class="bibr" href="#iso-def.REF.salih.2013.109" rid="iso-def.REF.salih.2013.109">Salih et al 2013</a>, <a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>]:</div><ul><li class="half_rhythm"><div>During the first week, loss of gray-white matter differentiation and edema in the cerebral cortex and basal ganglia</div></li><li class="half_rhythm"><div>During the ensuing weeks, development of the following:</div><ul><li class="half_rhythm"><div>Cystic encephalomalacia in the subcortical white matter, external capsules, and basal ganglia</div></li><li class="half_rhythm"><div>Ventriculomegaly and diffuse cerebral atrophy, which may be consistent with ulegyria</div></li><li class="half_rhythm"><div>Thinning of the corpus callosum</div></li></ul></li></ul></li><li class="half_rhythm"><div class="half_rhythm"><b>CT</b> shows calcifications in thalami and/or basal ganglia [<a class="bibr" href="#iso-def.REF.salih.2013.109" rid="iso-def.REF.salih.2013.109">Salih et al 2013</a>, <a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>, <a class="bibr" href="#iso-def.REF.zaki.2016.714" rid="iso-def.REF.zaki.2016.714">Zaki et al 2016</a>].</div><div class="half_rhythm">Of note: Marked cerebellar hypoplasia and the progressive cystic and atrophic changes seen ISOD help differentiate it from mild-to-moderate hypoxic ischemic encephalopathy, in which the cerebellum, brain stem, and deep gray matter structures are usually spared [<a class="bibr" href="#iso-def.REF.volpe.2008" rid="iso-def.REF.volpe.2008">Volpe 2008</a>].</div></li><li class="half_rhythm"><div class="half_rhythm"><b>Diffusion-weighted imaging</b> shows diffuse and symmetric cytotoxic edema involving the basal ganglia, cerebral cortex, and subcortical white matter suggesting an acute metabolic derangement [<a class="bibr" href="#iso-def.REF.eichler.2006.801" rid="iso-def.REF.eichler.2006.801">Eichler et al 2006</a>, <a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>].</div></li><li class="half_rhythm"><div class="half_rhythm"><b>Magnetic resonance spectroscopy</b> shows reduced N-acetylaspartate/total creatine ratio and abnormal elevation of lactate, glutamine, and glutamate peaks [<a class="bibr" href="#iso-def.REF.hoffmann.2007.1214" rid="iso-def.REF.hoffmann.2007.1214">Hoffmann et al 2007</a>].</div></li><li class="half_rhythm"><div class="half_rhythm"><b>Single-photon emission tomography</b> using 99mTc-ethyl cysteinate dimer in one individual showed decreased uptake bilaterally in the frontal lobes [<a class="bibr" href="#iso-def.REF.huang.2012.44" rid="iso-def.REF.huang.2012.44">Huang et al 2012</a>].</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col fig" id="figisodefF2" co-legend-rid="figlgndisodefF2"><a href="/books/NBK453433/figure/iso-def.F2/?report=objectonly" target="object" title="Figure 2. " class="img_link icnblk_img figpopup" rid-figpopup="figisodefF2" rid-ob="figobisodefF2"><img class="small-thumb" src="/books/NBK453433/bin/iso-def-Image002.gif" src-large="/books/NBK453433/bin/iso-def-Image002.jpg" alt="Figure 2. " /></a><div class="icnblk_cntnt" id="figlgndisodefF2"><h4 id="iso-def.F2"><a href="/books/NBK453433/figure/iso-def.F2/?report=objectonly" target="object" rid-ob="figobisodefF2">Figure 2. </a></h4><p class="float-caption no_bottom_margin">Brain MRI in a child with classic isolated sulfite oxidase deficiency a. T<sub>2</sub>-weighted axial view demonstrates cystic leukomalacia at age 29 days.</p></div></div><p>
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<b>Late-onset ISOD</b>
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</p><ul><li class="half_rhythm"><div><b>Cranial MRI</b> shows T<sub>2</sub>-weighted hyperintensities in the globus pallidi at presentation; thin corpus callosum is the other finding [<a class="bibr" href="#iso-def.REF.del_rizzo.2013.263" rid="iso-def.REF.del_rizzo.2013.263">Del Rizzo et al 2013</a>, <a class="bibr" href="#iso-def.REF.rocha.2014.176" rid="iso-def.REF.rocha.2014.176">Rocha et al 2014</a>].</div></li></ul></div><div id="iso-def.Laboratory_Findings"><h4>Laboratory Findings</h4><p><b>Both classic and late-onset ISOD</b> exhibit a characteristic metabolic profile that includes the following:</p><ul><li class="half_rhythm"><div>
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<b>Urinary sulfite identified on a dipstick screening test</b>
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</div><div>Note: (1) Urinary sulfite is very unstable and disappears rapidly from urine either at room temperature or even when urine is stored at 40° C; therefore, testing immediately after voiding is recommended [<a class="bibr" href="#iso-def.REF.johnson.2001" rid="iso-def.REF.johnson.2001">Johnson & Duran 2001</a>, <a class="bibr" href="#iso-def.REF.tan.2005.757" rid="iso-def.REF.tan.2005.757">Tan et al 2005</a>]. (2) False positive urinary sulfite results may be caused by:</div><ul><li class="half_rhythm"><div>Drugs containing free aliphatic sulfhydryl group such as N-acetyl cysteine, mercaptamine, dimercaprol, and mucolite drug 2-mercaptoethane sulfonate;</div></li><li class="half_rhythm"><div>Certain antibiotics such as cefotaxime, cefuroxime, ampicillin, and benzylpenicillin [<a class="bibr" href="#iso-def.REF.tan.2005.757" rid="iso-def.REF.tan.2005.757">Tan et al 2005</a>]; and</div></li><li class="half_rhythm"><div>Bacterial degradation of urine samples as reflected by increased levels of compounds such as succinic acid, benzoic acid, 2-hydroxyglutaric acid, and uracil [<a class="bibr" href="#iso-def.REF.sass.2010.544" rid="iso-def.REF.sass.2010.544">Sass et al 2010</a>].</div></li></ul></li><li class="half_rhythm"><div><b>Elevated urinary thiosulfate and S-sulfocysteine and low urinary organic sulfate.</b> Urinary thiosulfate, a stable compound, is measured by a spectrophotometric method. S-sulfocysteine is measured by tandem mass spectrometry [<a class="bibr" href="#iso-def.REF.rashed.2005.223" rid="iso-def.REF.rashed.2005.223">Rashed et al 2005</a>, <a class="bibr" href="#iso-def.REF.salih.2013.109" rid="iso-def.REF.salih.2013.109">Salih et al 2013</a>]. (Note that serum uric acid levels are normal ‒ as are urine xanthine and hypoxanthine levels.)</div></li><li class="half_rhythm"><div><b>Markedly reduced plasma level of total homocysteine,</b> a sensitive and specific indicator of sulfite oxidase deficiency [<a class="bibr" href="#iso-def.REF.basheer.2007.38" rid="iso-def.REF.basheer.2007.38">Basheer et al 2007</a>, <a class="bibr" href="#iso-def.REF.sass.2010.544" rid="iso-def.REF.sass.2010.544">Sass et al 2010</a>]</div></li></ul></div></div><div id="iso-def.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of ISOD <b>is established</b> in a proband by the identification of biallelic pathogenic (or likely pathogenic) variants in <i>SUOX</i> by molecular genetic testing (see <a href="/books/NBK453433/table/iso-def.T.molecular_genetic_testing_used/?report=objectonly" target="object" rid-ob="figobisodefTmoleculargenetictestingused">Table 1</a>).</p><p>Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making [<a class="bibr" href="#iso-def.REF.richards.2015.405" rid="iso-def.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. (2) Identification of biallelic <i>SUOX</i> variants of uncertain significance (or of one known <i>SUOX</i> pathogenic variant and one <i>SUOX</i> variant of uncertain significance) does not establish or rule out the diagnosis.</p><p>Molecular genetic testing approaches can include a combination of <b>gene-targeted testing</b> (single-gene testing, multigene panel) and <b>genomic testing</b> (comprehensive genomic sequencing) depending on the phenotype.</p><p>Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of isolated sulfite oxidase deficiency is broad, children with the distinctive findings of classic ISOD described in <a href="#iso-def.Suggestive_Findings">Suggestive Findings</a> are likely to be diagnosed using gene-targeted testing (see <a href="#iso-def.Option_1">Option 1</a>), whereas those with a phenotype indistinguishable from many other inherited neonatal seizures or those with late-onset (milder) ISOD are more likely to be diagnosed using genomic testing (see <a href="#iso-def.Option_2">Option 2</a>).</p><div id="iso-def.Option_1"><h4>Option 1</h4><p>When the phenotypic and laboratory findings suggest the diagnosis of ISOD, molecular genetic testing approaches can include <b>single-gene testing</b> or use of a <b>multigene panel</b>:</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>Single-gene testing.</b> Sequence analysis of <i>SUOX</i> is performed first. If only one pathogenic variant is found, gene-targeted deletion/duplication analysis could be considered; however, to date no exon or whole-gene deletions have been reported.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>A multigene panel</b> that includes <i>SUOX</i> and other genes of interest (see <a href="#iso-def.Differential_Diagnosis">Differential Diagnosis</a>) may also be considered. 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>; thus, clinicians need to determine which multigene panel 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. (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.</div><div class="half_rhythm">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>.</div></li></ul></div><div id="iso-def.Option_2"><h4>Option 2</h4><p>When the phenotype is indistinguishable from many other inherited neonatal seizures, molecular genetic testing approaches can include <b>genomic testing</b> and/or <b>gene-targeted testing</b>:</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>Comprehensive genomic testing</b> (when clinically available) includes exome sequencing and genome sequencing.</div><div class="half_rhythm">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>.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>A neonatal epileptic encephalopathy multigene panel</b> may be considered.</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figisodefTmoleculargenetictestingused"><a href="/books/NBK453433/table/iso-def.T.molecular_genetic_testing_used/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobisodefTmoleculargenetictestingused"><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="iso-def.T.molecular_genetic_testing_used"><a href="/books/NBK453433/table/iso-def.T.molecular_genetic_testing_used/?report=objectonly" target="object" rid-ob="figobisodefTmoleculargenetictestingused">Table 1. </a></h4><p class="float-caption no_bottom_margin">Molecular Genetic Testing Used in Isolated Sulfite Oxidase Deficiency </p></div></div></div></div></div><div id="iso-def.Clinical_Characteristics"><h2 id="_iso-def_Clinical_Characteristics_">Clinical Characteristics</h2><div id="iso-def.Clinical_Description"><h3>Clinical Description</h3><p>Isolated sulfite oxidase deficiency (ISOD), a rare inborn error of metabolism of sulfur-containing amino acids, comprises a spectrum ranging from classic early-onset (severe) disease to late-onset (mild) disease [<a class="bibr" href="#iso-def.REF.johnson.2001" rid="iso-def.REF.johnson.2001">Johnson & Duran 2001</a>].</p><div id="iso-def.Classic_ISOD"><h4>Classic ISOD</h4><p>Classic ISOD typically manifests within few hours to days of life with intractable seizures, feeding difficulties, and rapidly progressive encephalopathy [<a class="bibr" href="#iso-def.REF.sass.2010.544" rid="iso-def.REF.sass.2010.544">Sass et al 2010</a>, <a class="bibr" href="#iso-def.REF.salih.2013.109" rid="iso-def.REF.salih.2013.109">Salih et al 2013</a>, <a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>]. The clinical features resemble that of neonatal hypoxic ischemic encephalopathy.</p><p>Almost all affected infants are born after uncomplicated pregnancy. Of note, sustained abdominal trembling resembling vibration of mobile phones (interpreted as fetal seizures) has been reported in the third trimester in one instance [<a class="bibr" href="#iso-def.REF.chen.2014.181" rid="iso-def.REF.chen.2014.181">Chen et al 2014</a>]. Delivery is usually uncomplicated, although Apgar scores may be depressed.</p><p>Multiple types of seizures including tonic-clonic and multifocal myoclonic seizures not responding to treatment are the main feature [<a class="bibr" href="#iso-def.REF.sass.2010.544" rid="iso-def.REF.sass.2010.544">Sass et al 2010</a>, <a class="bibr" href="#iso-def.REF.bindu.2011.1036" rid="iso-def.REF.bindu.2011.1036">Bindu et al 2011</a>, <a class="bibr" href="#iso-def.REF.salih.2013.109" rid="iso-def.REF.salih.2013.109">Salih et al 2013</a>, <a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>]. Rarely, infantile spasms and hypsarrhythmia, exaggerated startle response, or hyperekplexia also have been reported [<a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>, <a class="bibr" href="#iso-def.REF.holder.2014.782" rid="iso-def.REF.holder.2014.782">Holder et al 2014</a>]. Electroencephalography (EEG) shows low-amplitude or disorganized background [<a class="bibr" href="#iso-def.REF.sass.2010.544" rid="iso-def.REF.sass.2010.544">Sass et al 2010</a>, <a class="bibr" href="#iso-def.REF.holder.2014.782" rid="iso-def.REF.holder.2014.782">Holder et al 2014</a>], multifocal epileptiform discharges [<a class="bibr" href="#iso-def.REF.holder.2014.782" rid="iso-def.REF.holder.2014.782">Holder et al 2014</a>], or a burst suppression pattern [<a class="bibr" href="#iso-def.REF.relinque.2015.53" rid="iso-def.REF.relinque.2015.53">Relinque et al 2015</a>].</p><p>Neurologic examination reveals abnormalities in tone including opisthotonus, spastic quadriplegia, and pyramidal signs.</p><p>All affected children develop profound psychomotor retardation: neurologic development is halted at the level of brain stem reflexes and children lack any response to environmental stimulation except for exaggerated startle and intermittent seizures [<a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>].</p><p>Although head circumference is normal at birth, severe progressive postnatal microcephaly develops [<a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>]. Progressive facial dysmorphism is an additional feature.</p><p>Systemic manifestations are rare and can include such findings as severe asthma and pyloric stenosis [<a class="bibr" href="#iso-def.REF.bindu.2011.1036" rid="iso-def.REF.bindu.2011.1036">Bindu et al 2011</a>, <a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>].</p><p>Prognosis is poor and children usually die during the first few months of life.</p><p>A significant proportion of infants who survive the newborn period develop ectopia lentis (lens dislocation or subluxation) [<a class="bibr" href="#iso-def.REF.johnson.2001" rid="iso-def.REF.johnson.2001">Johnson & Duran 2001</a>, <a class="bibr" href="#iso-def.REF.bosley.2014.42" rid="iso-def.REF.bosley.2014.42">Bosley et al 2014</a>]. The natural history of ectopia lentis is not known: it may not be present (or at least not obvious) during the first few months and may only become evident (and detectable by ophthalmologic examination) during the first year. Subtle lens dislocation may be obvious only after dilation of the pupil and slit lamp examination (over time) [<a class="bibr" href="#iso-def.REF.lueder.1995.334" rid="iso-def.REF.lueder.1995.334">Lueder & Steiner 1995</a>].</p></div><div id="iso-def.LateOnset_ISOD"><h4>Late-Onset ISOD</h4><p>Late-onset ISOD differs from the classic form in that onset is between ages six and 18 months and some suggestive findings (e.g., intractable seizures, ectopia lentis) may be absent.</p><p>The main clinical features are developmental delay/regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and (rarely) acute hemiplegia as a result of metabolic stroke. The clinical course may be progressive or episodic. In the episodic form encephalopathy, dystonia, choreoathetosis, and/or ataxia are intermittent [<a class="bibr" href="#iso-def.REF.van_der_knaap.2005" rid="iso-def.REF.van_der_knaap.2005">Van der Knaap &Valk 2005</a>, <a class="bibr" href="#iso-def.REF.del_rizzo.2013.263" rid="iso-def.REF.del_rizzo.2013.263">Del Rizzo et al 2013</a>, <a class="bibr" href="#iso-def.REF.rocha.2014.176" rid="iso-def.REF.rocha.2014.176">Rocha et al 2014</a>].</p><p>Ectopia lentis (lens dislocation or subluxation) may or may not be present at the time of presentation.</p></div></div><div id="iso-def.GenotypePhenotype_Correlations"><h3>Genotype-Phenotype Correlations</h3><p>The number of individuals with confirmed pathogenic variants in <i>SUOX</i> is too small to make any conclusive genotype-phenotype correlations.</p></div><div id="iso-def.Prevalence"><h3>Prevalence</h3><p>Prevalence of ISOD is unknown. Approximately 50 affected individuals have been reported to date. The disorder is probably underdiagnosed. The incidence may be higher in populations with a high rate of consanguinity.</p></div></div><div id="iso-def.Genetically_Related_Allelic_Diso"><h2 id="_iso-def_Genetically_Related_Allelic_Diso_">Genetically Related (Allelic) Disorders</h2><p>No phenotypes other than those discussed in this <i>GeneReview</i> are known to be associated with pathogenic variants in <i>SUOX</i>.</p></div><div id="iso-def.Differential_Diagnosis"><h2 id="_iso-def_Differential_Diagnosis_">Differential Diagnosis</h2><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figisodefTdisorderstoconsiderinthed"><a href="/books/NBK453433/table/iso-def.T.disorders_to_consider_in_the_d/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobisodefTdisorderstoconsiderinthed"><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="iso-def.T.disorders_to_consider_in_the_d"><a href="/books/NBK453433/table/iso-def.T.disorders_to_consider_in_the_d/?report=objectonly" target="object" rid-ob="figobisodefTdisorderstoconsiderinthed">Table 2. </a></h4><p class="float-caption no_bottom_margin">Disorders to Consider in the Differential Diagnosis of Isolated Sulfite Oxidase Deficiency (ISOD) </p></div></div></div><div id="iso-def.Management"><h2 id="_iso-def_Management_">Management</h2><div id="iso-def.Evaluations_Following_Initial_Di"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and/or needs in an individual with a diagnosis of isolated sulfite oxidase deficiency (ISOD), the following evaluations are recommended:</p><ul><li class="half_rhythm"><div>Complete neurologic assessment by a pediatric neurologist</div></li><li class="half_rhythm"><div>Formal developmental assessment</div></li><li class="half_rhythm"><div>Ophthalmologic evaluation</div></li><li class="half_rhythm"><div>EEG/video EEG to monitor seizures</div></li><li class="half_rhythm"><div>Assessment of feeding and nutrition and appropriate intervention</div></li><li class="half_rhythm"><div>Consultation with a clinical geneticist and/or genetic counselor</div></li></ul></div><div id="iso-def.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>To date, no definitive treatment for ISOD has been identified. Symptomatic management by a multidisciplinary team consisting of specialists in neurology, nutrition, gastroenterology, pulmonary medicine, physiotherapy, and orthopedics is recommended. Management includes the following:</p><ul><li class="half_rhythm"><div>Appropriate medications for management of seizures and spasticity</div></li><li class="half_rhythm"><div>Early consideration of gastrostomy tube placement to manage difficulties with swallowing to assure adequate caloric intake and reduce the risk of aspiration.</div></li><li class="half_rhythm"><div>Appropriate management of vomiting, gastroesophageal reflux disease, and aspiration pneumonia</div></li><li class="half_rhythm"><div>Chest physiotherapy to prevent respiratory complications</div></li><li class="half_rhythm"><div>Sleep studies to assess nocturnal hypoventilation and institute appropriate interventions</div></li><li class="half_rhythm"><div>Assessment for scoliosis</div></li></ul><p>The following treatment modalities have been tried with minimal success:</p><ul><li class="half_rhythm"><div><b>Dietary.</b> A low-protein diet restricted in cysteine and methionine has been tried in a few individuals with ISOD. Clinical and biochemical improvement were reported in two individuals with late-onset ISOD [<a class="bibr" href="#iso-def.REF.del_rizzo.2013.263" rid="iso-def.REF.del_rizzo.2013.263">Del Rizzo et al 2013</a>]. No clinical benefit has been noted in those with classic ISOD. The value of these diets in presymptomatic individuals has yet to be established.</div></li><li class="half_rhythm"><div><b>Medical.</b> No medical treatment that improves the neurologic outcome or prevents the development of neurologic manifestations in individuals with ISOD has been identified. The following agents have been tried on an experimental basis with minimal clinical effect:</div><ul><li class="half_rhythm"><div>Betaine has been used to increase the remethylation of homocysteine back to methionine, which reduces cysteine and leads to reduction in sulfite levels.</div></li><li class="half_rhythm"><div>Thiamine replacement has been attempted (given that the accumulation of sulfite leads to depletion of thiamine).</div></li><li class="half_rhythm"><div>Use of cysteamine and penicillamine (chelating agents used to chelate sulfite) resulted in no beneficial clinical effects.</div></li></ul></li></ul></div><div id="iso-def.Surveillance"><h3>Surveillance</h3><p>Periodic assessment by the multidisciplinary team with particular attention to the following:</p><ul><li class="half_rhythm"><div>Nutritional status</div></li><li class="half_rhythm"><div>Neurologic status including evaluation of dosages of anti-seizure medication and their side effects</div></li><li class="half_rhythm"><div>Degree of spasticity and related complications, including scoliosis</div></li><li class="half_rhythm"><div>Periodic sleep studies</div></li></ul></div><div id="iso-def.Evaluation_of_Relatives_at_Risk"><h3>Evaluation of Relatives at Risk</h3><p>See <a href="#iso-def.Related_Genetic_Counseling_Issue">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div><div id="iso-def.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="iso-def.Genetic_Counseling"><h2 id="_iso-def_Genetic_Counseling_">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="iso-def.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Isolated sulfite oxidase deficiency (ISOD) is inherited in an autosomal recessive manner.</p></div><div id="iso-def.Risk_to_Family_Members"><h3>Risk to Family Members</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 affected child are obligate heterozygotes (i.e., carriers of one <i>SUOX</i> pathogenic variant).</div></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>At conception, each sib of an affected individual has 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 isolated ISOD would be obligate heterozygotes (carriers) for a pathogenic variant in <i>SUOX</i>. To date, no affected individuals have reproduced.</p><p><b>Other family members.</b> Each sib of the proband's parents is at a 50% risk of being a carrier of a <i>SUOX</i> pathogenic variant.</p></div><div id="iso-def.Carrier_Detection"><h3>Carrier Detection</h3><p>Carrier testing for at-risk relatives requires prior identification of the <i>SUOX</i> pathogenic variants in the family.</p></div><div id="iso-def.Related_Genetic_Counseling_Issue"><h3>Related Genetic Counseling Issues</h3><p>
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<b>Family planning</b>
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</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.</div></li></ul><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="#iso-def.REF.huang.2022.389" rid="iso-def.REF.huang.2022.389">Huang et al [2022]</a>.</p></div><div id="iso-def.Prenatal_Testing_and_Preimplanta"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the <i>SUOX</i> pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="iso-def.Resources"><h2 id="_iso-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>Metabolic Support UK</b>
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</div><div>United Kingdom</div><div><b>Phone:</b> 0845 241 2173</div><div>
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<a href="https://metabolicsupportuk.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">metabolicsupportuk.org</a>
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</div></li></ul>
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</div><div id="iso-def.Molecular_Genetics"><h2 id="_iso-def_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figisodefmolgenTA"><a href="/books/NBK453433/table/iso-def.molgen.TA/?report=objectonly" target="object" title="Table A." class="img_link icnblk_img" rid-ob="figobisodefmolgenTA"><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="iso-def.molgen.TA"><a href="/books/NBK453433/table/iso-def.molgen.TA/?report=objectonly" target="object" rid-ob="figobisodefmolgenTA">Table A.</a></h4><p class="float-caption no_bottom_margin">Isolated Sulfite Oxidase Deficiency: Genes and Databases </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figisodefmolgenTB"><a href="/books/NBK453433/table/iso-def.molgen.TB/?report=objectonly" target="object" title="Table B." class="img_link icnblk_img" rid-ob="figobisodefmolgenTB"><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="iso-def.molgen.TB"><a href="/books/NBK453433/table/iso-def.molgen.TB/?report=objectonly" target="object" rid-ob="figobisodefmolgenTB">Table B.</a></h4><p class="float-caption no_bottom_margin">OMIM Entries for Isolated Sulfite Oxidase Deficiency (View All in OMIM) </p></div></div><p><b>Gene structure.</b> The longest <i>SUOX</i> transcript (<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000456.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000456.2</a>) comprises eight exons distributed over 2.5 kb. This is the sequence typically analyzed by standard screening.</p><p>See <a href="/books/NBK453433/?report=reader#iso-def.molgen.TA">Table A</a>, <b>Gene</b> for a detailed summary of gene and protein information.</p><p><b>Pathogenic variants.</b> The variants identified in <i>SUOX</i> include deletions, insertions, and missense variants.</p><p>An individual with uniparental disomy 12 (UPD12) with a paternal p.Tyr400Ter reduced to homozygosity has been reported [<a class="bibr" href="#iso-def.REF.cho.2013.13" rid="iso-def.REF.cho.2013.13">Cho et al 2013</a>].</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figisodefTselectedsuoxpathogenicvaria"><a href="/books/NBK453433/table/iso-def.T.selected_suox_pathogenic_varia/?report=objectonly" target="object" title="Table 3. " class="img_link icnblk_img" rid-ob="figobisodefTselectedsuoxpathogenicvaria"><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="iso-def.T.selected_suox_pathogenic_varia"><a href="/books/NBK453433/table/iso-def.T.selected_suox_pathogenic_varia/?report=objectonly" target="object" rid-ob="figobisodefTselectedsuoxpathogenicvaria">Table 3. </a></h4><p class="float-caption no_bottom_margin">Selected <i>SUOX</i> Pathogenic Variants </p></div></div><p><b>Normal gene product.</b> Sulfite oxidase is a molybdohemoprotein comprising 466 amino acids localized to the intermembrane space of mitochondria. The enzyme is a dimer of identical units consisting of three domains: an N-terminal heme domain, a central molybdenum domain, and a C-terminal domain. Sulfite oxidase catalyzes the oxidation of sulfite to sulfate, the terminal reaction in the pathway of degradation of the sulfur amino acids cysteine and methionine. The electrons derived from this reaction are transferred to cytochrome <i>c</i> on the mitochondrial inner membrane.</p><p><b>Abnormal gene product.</b> The effects of pathogenic variants on sulfite oxidase structure that have been characterized in a few instances include: (1) conformational changes around the active site leading to perturbation of substrate binding and/or oxidation; (2) global effects on the stability and alteration of the sulfite oxidase dimer; and (3) defective molybdenum cofactor binding [<a class="bibr" href="#iso-def.REF.karakas.2005.3459" rid="iso-def.REF.karakas.2005.3459">Karakas & Kisker 2005</a>].</p></div><div id="iso-def.Chapter_Notes"><h2 id="_iso-def_Chapter_Notes_">Chapter Notes</h2><div id="iso-def.Acknowledgments"><h3>Acknowledgments</h3><p>The authors wish to thank all patients and their families for their collaboration.</p></div><div id="iso-def.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>21 September 2017 (bp) Review posted live</div></li><li class="half_rhythm"><div>27 March 2017 (psb) Original submission</div></li></ul></div></div><div id="iso-def.References"><h2 id="_iso-def_References_">References</h2><div id="iso-def.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.basheer.2007.38">Basheer SN, Waters PJ, Lam CW, Acquaviva-Bourdain C, Hendson G, Poskitt K, Hukin J. Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy. <span><span class="ref-journal">Neuropediatrics. </span>2007;<span class="ref-vol">38</span>:38–41.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17607604" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17607604</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.bindu.2011.1036">Bindu PS, Christopher R, Mahadevan A, Bharath RD. Clinical and imaging observations in isolated sulfite oxidase deficiency. <span><span class="ref-journal">J Child Neurol. </span>2011;<span class="ref-vol">26</span>:1036–40.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/21572056" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21572056</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.bosley.2014.42">Bosley TM, Alorainy IA, Oystreck DT, Hellani AM, Seidahmed MZ, Osman Mel F, Sabry MA, Rashed MS, Al-Yamani EA, Abu-Amero KK, Salih MA. Neurologic injury in isolated sulfite oxidase deficiency. <span><span class="ref-journal">Can J Neurol Sci. </span>2014;<span class="ref-vol">41</span>:42–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24384336" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24384336</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.chen.2014.181">Chen LW, Tsai YS, Huang CC. Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutation. <span><span class="ref-journal">Pediatr Neurol. </span>2014;<span class="ref-vol">51</span>:181–2.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24938149" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24938149</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.cho.2013.13">Cho SY, Goh DL, Lau KC, Ong HT, Lam CW. Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency. <span><span class="ref-journal">Clin Chim Acta. </span>2013;<span class="ref-vol">426</span>:13–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23994568" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23994568</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.del_rizzo.2013.263">Del Rizzo M, Burlina AP, Sass JO, Beermann F, Zanco C, Cazzorla C, Bordugo A, Giordano L, Manara R, Burlina AB. Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. <span><span class="ref-journal">Mol Genet Metab. </span>2013;<span class="ref-vol">108</span>:263–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23414711" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23414711</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.edwards.1999.1957">Edwards MC, Johnson JL, Marriage B, Graf TN, Coyne KE, Rajagopalan KV, MacDonald IM. Isolated sulfite oxidase deficiency: review of two cases in one family. <span><span class="ref-journal">Ophthalmology. </span>1999;<span class="ref-vol">106</span>:1957–61.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10519592" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10519592</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.eichler.2006.801">Eichler F, Tan WH, Shih VE, Grant PE, Krishnamoorthy K. Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. <span><span class="ref-journal">J Child Neurol. </span>2006;<span class="ref-vol">21</span>:801–5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16970890" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16970890</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.hoffmann.2007.1214">Hoffmann C, Ben-Zeev B, Anikster Y, Nissenkorn A, Brand N, Kuint J, Kushnir T. Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. <span><span class="ref-journal">J Child Neurol. </span>2007;<span class="ref-vol">22</span>:1214–21.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17940249" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17940249</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.huang.2012.44">Huang YL, Lin DS, Huang JK, Chiu NC, Ho CS. [99]mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency. <span><span class="ref-journal">Pediatr Neurol. </span>2012;<span class="ref-vol">47</span>:44–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/22704016" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22704016</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.holder.2014.782">Holder JL Jr, Agadi S, Reese W, Rehder C, Quach MM. Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. <span><span class="ref-journal">JAMA Neurol. </span>2014;<span class="ref-vol">71</span>:782–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24756183" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24756183</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.huang.2022.389">Huang SJ, Amendola LM, Sternen DL. Variation among DNA banking consent forms: points for clinicians to bank on. <span><span class="ref-journal">J Community Genet. </span>2022;<span class="ref-vol">13</span>:389–97.</span> [<a href="/pmc/articles/PMC9314484/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9314484</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35834113" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35834113</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.johnson.2001">Johnson JL, Duran M. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, eds. <em>The Metabolic and Molecular Bases of Inherited Disease</em>. Vol 2. 8 ed. New York, NY: McGraw-Hill; 2001:3163-77.</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.karakas.2005.3459">Karakas E, Kisker C. Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. <span><span class="ref-journal">Dalton Trans. </span>2005;<span class="ref-vol">21</span>:3459–63.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16234925" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16234925</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.lueder.1995.334">Lueder GT, Steiner RD. Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. <span><span class="ref-journal">J Pediatr Ophthalmol Strabismus. </span>1995;<span class="ref-vol">32</span>:334–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8531042" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8531042</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.rashed.2005.223">Rashed MS, Saadallah AA, Rahbeeni Z, Eyaid W, Seidahmed MZ, Al-Shahwan S, Salih MA, Osman ME, Al-Amoudi M, Al-Ahaidib L, Jacob M. Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry. <span><span class="ref-journal">Biomed Chromatogr. </span>2005;<span class="ref-vol">19</span>:223–30.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15558695" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15558695</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.relinque.2015.53">Relinque B, Bardallo L, Granero M, Jiménez PJ, Luna S. Isolated sulfite oxidase deficiency. <span><span class="ref-journal">J Neonatal Perinatal Med. </span>2015;<span class="ref-vol">8</span>:53–5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/25758000" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25758000</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.richards.2015.405">Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. <span><span class="ref-journal">Genet Med. </span>2015;<span class="ref-vol">17</span>:405–24.</span> [<a href="/pmc/articles/PMC4544753/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4544753</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25741868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25741868</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.rocha.2014.176">Rocha S, Ferreira AC, Dias AI, Vieira JP, Sequeira S. Sulfite oxidase deficiency--an unusual late and mild presentation. <span><span class="ref-journal">Brain Dev. </span>2014;<span class="ref-vol">36</span>:176–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23452914" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23452914</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.rupar.1996.299">Rupar CA, Gillett J, Gordon BA, Ramsay DA, Johnson JL, Garrett RM, Rajagopalan KV, Jung JH, Bacheyie GS, Sellers AR. Isolated sulfite oxidase deficiency. <span><span class="ref-journal">Neuropediatrics. </span>1996;<span class="ref-vol">27</span>:299–304.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9050047" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9050047</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.salih.2013.109">Salih MA, Bosley TM, Alorainy IA, Sabry MA, Rashed MS, Al-Yamani EA, El-Akoum S, Mohamed SH, Abu-Amero KK, Hellani AM. Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency. <span><span class="ref-journal">Can J Neurol Sci. </span>2013;<span class="ref-vol">40</span>:109–12.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23250141" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23250141</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.sass.2010.544">Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fátima Turcato M, Lam CW, Reiss J, Walter M, Yalcinkaya C, Camelo JS Junior. Functional deficiencies of sulfite oxidase: differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. <span><span class="ref-journal">Brain Dev. </span>2010;<span class="ref-vol">32</span>:544–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/19793632" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19793632</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.seidahmed.2005.205">Seidahmed MZ, Alyamani EA, Rashed MS, Saadallah AA, Abdelbasit OB, Shaheed MM, Rasheed A, Hamid FA, Sabry MA. Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency. <span><span class="ref-journal">Am J Med Genet A. </span>2005;<span class="ref-vol">136</span>:205–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15952210" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15952210</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.tan.2005.757">Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. <span><span class="ref-journal">Pediatrics. </span>2005;<span class="ref-vol">116</span>:757–66.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16140720" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16140720</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.van_der_knaap.2005">Van der Knaap MS, Valk J. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: <em>Magnetic Resonance Myelination and Myelin Disorders</em>. 3 ed. Berlin-Heidelberg: Springer; 2005:372–6.</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.volpe.2008">Volpe JJ. Hypoxic ischemic encephalopathy: clinical aspects. In: <em>Neurology of the Newborn.</em> 5 ed. Philadelphia: Saunders; 2008:400-80.</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="iso-def.REF.zaki.2016.714">Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS. Molybdenum cofactor and isolated sulphite oxidase deficiencies: clinical and molecular spectrum among Egyptian patients. <span><span class="ref-journal">Eur J Paediatr Neurol. </span>2016;<span class="ref-vol">20</span>:714–22.</span> [<a href="/pmc/articles/PMC4993451/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4993451</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27289259" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27289259</span></a>]</div></p></li></ul></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK453433_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Parayil Sankaran Bindu</span>, MD, DM<div class="affiliation small">Department of Neurology<br />National Institute of Mental Health and Neurosciences<br />Bangalore, India<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ni.oc.oohay@udnibsprd" class="oemail">ni.oc.oohay@udnibsprd</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Madhu Nagappa</span>, MD, DM<div class="affiliation small">Department of Neurology<br />National Institute of Mental Health and Neurosciences<br />Bangalore, India<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ni.oc.oohay@appagan_uhdam" class="oemail">ni.oc.oohay@appagan_uhdam</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Rose Dawn Bharath</span>, DM<div class="affiliation small">Department of Neuroimaging and Interventional Neuroradiology<br />National Institute of Mental Health and Neurosciences<br />Bangalore, India<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="moc.oohay@nwadesorrd" class="oemail">moc.oohay@nwadesorrd</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Arun B Taly</span>, MD, DM<div class="affiliation small">Department of Neuroimaging and Interventional Neuroradiology<br />National Institute of Mental Health and Neurosciences<br />Bangalore, India<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="moc.oohay@ylatba" class="oemail">moc.oohay@ylatba</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">September 21, 2017</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>Bindu PS, Nagappa M, Bharath RD, et al. Isolated Sulfite Oxidase Deficiency. 2017 Sep 21. 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/mma/?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/jln/?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="figobisodefTmoleculargenetictestingused"><div id="iso-def.T.molecular_genetic_testing_used" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in Isolated Sulfite Oxidase Deficiency</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK453433/table/iso-def.T.molecular_genetic_testing_used/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__iso-def.T.molecular_genetic_testing_used_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_iso-def.T.molecular_genetic_testing_used_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_iso-def.T.molecular_genetic_testing_used_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_iso-def.T.molecular_genetic_testing_used_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Probands with Pathogenic Variants <sup>2</sup> Detectable by Method</th></tr></thead><tbody><tr><td headers="hd_h_iso-def.T.molecular_genetic_testing_used_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>SUOX</i>
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</td><td headers="hd_h_iso-def.T.molecular_genetic_testing_used_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>3</sup></td><td headers="hd_h_iso-def.T.molecular_genetic_testing_used_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">All variants reported to date have been identified by sequence analysis.</td></tr><tr><td headers="hd_h_iso-def.T.molecular_genetic_testing_used_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted deletion/duplication analysis <sup>4</sup></td><td headers="hd_h_iso-def.T.molecular_genetic_testing_used_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown <sup>5</sup></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="iso-def.TF.1.1"><p class="no_margin">See <a href="/books/NBK453433/?report=reader#iso-def.molgen.TA">Table A. Genes and Databases</a> for chromosome locus and protein.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="iso-def.TF.1.2"><p class="no_margin">See <a href="#iso-def.Molecular_Genetics">Molecular Genetics</a> for information on variants detected in this gene.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="iso-def.TF.1.3"><p class="no_margin">Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click <a href="/books/n/gene/app2/?report=reader">here</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="iso-def.TF.1.4"><p class="no_margin">Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="iso-def.TF.1.5"><p class="no_margin">No data on detection rate of gene-targeted deletion/duplication analysis are available.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobisodefTdisorderstoconsiderinthed"><div id="iso-def.T.disorders_to_consider_in_the_d" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Disorders to Consider in the Differential Diagnosis of Isolated Sulfite Oxidase Deficiency (ISOD)</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK453433/table/iso-def.T.disorders_to_consider_in_the_d/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__iso-def.T.disorders_to_consider_in_the_d_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_1" style="text-align:left;vertical-align:middle;">DiffDx Disorder</th><th id="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_2" style="text-align:left;vertical-align:middle;">Gene(s)</th><th id="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_3" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Features of DiffDx Disorder</th></tr><tr><th headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4" id="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/ISOD</th><th headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4" id="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from ISOD</th></tr></thead><tbody><tr><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/mc-def/?report=reader">Molybdenum cofactor deficiency</a>
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</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>MOCS1</i>
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<br />
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<i>MOCS2</i>
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<br />
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<i>MOCS3</i>
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<br />
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<i>GPHN</i>
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</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4 hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intractable seizures & feeding difficulties in 1st few hrs to days of life; subsequent severe ID, spasticity, & seizures refractory to ASM</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4 hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">↓ serum uric acid levels; ↑ urinary xanthine & hypoxanthine levels due to loss of function of xanthine dehydrogenase</td></tr><tr><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/nkh/?report=reader">Glycine encephalopathy</a>
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</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>GLDC</i>
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<br />
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<i>AMT</i>
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<br />
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<i>GCSH</i>
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</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4 hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive lethargy, hypotonia, & myoclonic jerks in 1st few hrs to days of life; subsequent profound ID & seizures refractory to ASM</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4 hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">↑ glycine levels in plasma & CSF; on MRI: diffusion restriction of areas that are myelinating at birth (e.g., posterior limb of internal capsule & pericentral area)</td></tr><tr><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/pds/?report=reader">Pyridoxine-dependent epilepsy</a>
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</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ALDH7A1</i>
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</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4 hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Soon after birth: seizures refractory to ASM</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4 hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Seizures respond to large supplements of pyridoxine.</td></tr><tr><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/pnpo-def/?report=reader">Pyridox(am)ine 5'-phosphate oxidase deficiency</a>
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</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>PNPO</i>
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</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4 hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Soon after birth: seizures refractory to ASM & pyridoxine</td><td headers="hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_1_4 hd_h_iso-def.T.disorders_to_consider_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Seizures respond to pyridoxal-5’ phosphate.</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; AR = autosomal recessive; DiffDx = differential diagnosis; ID = intellectual disability; MOI = mode of inheritance</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobisodefmolgenTA"><div id="iso-def.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>Isolated Sulfite Oxidase Deficiency: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK453433/table/iso-def.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__iso-def.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_iso-def.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_iso-def.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_iso-def.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_iso-def.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_iso-def.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_iso-def.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_iso-def.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="/gene/6821" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
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<i>SUOX</i>
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</a>
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</td><td headers="hd_b_iso-def.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6821" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">12q13<wbr style="display:inline-block"></wbr>​.2</a>
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</td><td headers="hd_b_iso-def.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://www.uniprot.org/uniprot/P51687" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Sulfite oxidase, mitochondrial</a>
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</td><td headers="hd_b_iso-def.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://databases.lovd.nl/shared/genes/SUOX" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">SUOX database</a>
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</td><td headers="hd_b_iso-def.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SUOX" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">SUOX</a>
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</td><td headers="hd_b_iso-def.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=SUOX[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">SUOX</a>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div id="iso-def.TFA.1"><p class="no_margin">Data are compiled from the following standard references: gene from
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<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
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chromosome locus from
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<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
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protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
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For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
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<a href="/books/n/gene/app1/?report=reader">here</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobisodefmolgenTB"><div id="iso-def.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for Isolated Sulfite Oxidase Deficiency (<a href="/omim/272300,606887" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK453433/table/iso-def.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__iso-def.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/272300" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">272300</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/606887" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">606887</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">SULFITE OXIDASE; SUOX</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobisodefTselectedsuoxpathogenicvaria"><div id="iso-def.T.selected_suox_pathogenic_varia" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Selected <i>SUOX</i> Pathogenic Variants</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK453433/table/iso-def.T.selected_suox_pathogenic_varia/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__iso-def.T.selected_suox_pathogenic_varia_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DNA Nucleotide Change</th><th id="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Predicted Protein Change</th><th id="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Reference Sequence</th></tr></thead><tbody><tr><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">See footnote 1.</td><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">p.Ser427Tyr</td><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_3" rowspan="6" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000456.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000456<wbr style="display:inline-block"></wbr>​.2</a>
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</td></tr><tr><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">c.520delG <sup>2</sup></td><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Premature termination</td></tr><tr><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">c.650G>A</td><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">p.Arg217Gln</td></tr><tr><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">c.794C>A</td><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">p.Ala265Asp</td></tr><tr><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">c.1400C>G</td><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">p.Tyr400Ter</td></tr><tr><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">c.1589G>A</td><td headers="hd_h_iso-def.T.selected_suox_pathogenic_varia_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">p.Gly530Asp</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">Variants listed in the table have been provided by the authors. <i>GeneReviews</i> staff have not independently verified the classification of variants.</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin"><i>GeneReviews</i> follows the standard naming conventions of the Human Genome Variation Society (<a href="https://varnomen.hgvs.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">varnomen<wbr style="display:inline-block"></wbr>​.hgvs.org</a>). See <a href="/books/n/gene/app3/?report=reader">Quick Reference</a> for an explanation of nomenclature.</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="iso-def.TF.3.1"><p class="no_margin">The original publication does not use current naming conventions and the c. nomenclature could not be determined [<a class="bibr" href="#iso-def.REF.edwards.1999.1957" rid="iso-def.REF.edwards.1999.1957">Edwards et al 1999</a>].</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="iso-def.TF.3.2"><p class="no_margin">The original publication does not use current naming conventions and names this variant c.1244delG [<a class="bibr" href="#iso-def.REF.seidahmed.2005.205" rid="iso-def.REF.seidahmed.2005.205">Seidahmed et al 2005</a>].</p></div></dd></dl></dl></div></div></div></article><article data-type="fig" id="figobisodefF1"><div id="iso-def.F1" class="figure bk_fig"><div class="graphic"><img data-src="/books/NBK453433/bin/iso-def-Image001.jpg" alt="Figure 1. " /></div><h3><span class="label">Figure 1. </span></h3><div class="caption"><p>Two males of Indian origin with classic isolated sulfite oxidase deficiency</p><p>a. Male child age 14 months (head circumference 43 cm; <5th centile for age); note long philtrum and thick lips.</p><p>b. Male child age eight years with severe microcephaly (head circumference 45 cm; <5th centile for age); note puffy cheeks, narrow bifrontal diameter, elongated palpebral fissures, and long philtrum.</p></div></div></article><article data-type="fig" id="figobisodefF2"><div id="iso-def.F2" class="figure bk_fig"><div class="graphic"><img data-src="/books/NBK453433/bin/iso-def-Image002.jpg" alt="Figure 2. " /></div><h3><span class="label">Figure 2. </span></h3><div class="caption"><p>Brain MRI in a child with classic isolated sulfite oxidase deficiency</p><p>a. T<sub>2</sub>-weighted axial view demonstrates cystic leukomalacia at age 29 days.</p><p>b. Follow-up MRI at age eight months shows ventricular dilatation and diffuse ulegyria.</p><p>c. T<sub>1</sub>-weighted sagittal view shows cerebellar hypoplasia and thin corpus callosum.</p></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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