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<!--
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UID=82817
|
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ConceptID=C0268559
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperglycinemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82817</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Elevated blood glycine levels; Hyperglycinaemia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hyperglycinemia (64654004)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002154">HP:0002154</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">An elevated concentration of glycine in the blood. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Hyperglycinemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1864085" ref="tree=MeSH" title="MedGen record for Abnormal circulating organic compound concentration">Abnormal circulating organic compound concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1684666" ref="tree=MeSH" title="MedGen record for Abnormal circulating carboxylic acid concentration">Abnormal circulating carboxylic acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/871177" ref="tree=MeSH" title="MedGen record for Abnormal circulating amino acid concentration">Abnormal circulating amino acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1728653" ref="tree=MeSH" title="MedGen record for Abnormal circulating proteinogenic amino acid concentration">Abnormal circulating proteinogenic amino acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/869248" ref="tree=MeSH" title="MedGen record for Abnormal circulating serine family amino acid concentration">Abnormal circulating serine family amino acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1684773" ref="tree=MeSH" title="MedGen record for Abnormal circulating glycine concentration">Abnormal circulating glycine concentration</a></span><ul><li><span class="matched_ds">Hyperglycinemia</span><ul><li><span class="TLline"><a href="/medgen/155625" ref="tree=MeSH" title="MedGen record for Glycine encephalopathy">Glycine encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/934910" ref="tree=MeSH" title="MedGen record for Atypical glycine encephalopathy">Atypical glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1781124" ref="tree=MeSH" title="MedGen record for Infantile glycine encephalopathy">Infantile glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1785446" ref="tree=MeSH" title="MedGen record for Neonatal glycine encephalopathy">Neonatal glycine encephalopathy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_82818"><div><strong>Hyperglycinemia, transient neonatal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82818</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268560</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75694"><div><strong>Propionic acidemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75694</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of propionic acidemia (PA) ranges from neonatal onset to late-onset disease. Neonatal-onset PA, the most common form, is characterized by a healthy newborn with poor feeding and decreased arousal in the first few days of life, followed by progressive encephalopathy of unexplained origin. Without prompt diagnosis (often through newborn screening) and management, this is followed by progressive encephalopathy manifesting as lethargy, seizures, or coma that can result in death. It is frequently accompanied by metabolic acidosis with anion gap, lactic acidosis, ketonuria, hypoglycemia, hyperammonemia, and cytopenias. Individuals with late-onset PA may remain asymptomatic and suffer a metabolic crisis under catabolic stress (e.g., illness, surgery, fasting) or may experience a more insidious onset with the development of multiorgan complications including vomiting, protein intolerance, failure to thrive, hypotonia, developmental delays or regression, movement disorders, or cardiomyopathy. Isolated cardiomyopathy can be observed on rare occasions in the absence of clinical metabolic decompensation or neurocognitive deficits. Manifestations of neonatal-onset and late-onset PA over time can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, cardiomyopathy, and chronic kidney disease. Other rarely reported complications include optic atrophy, sensorineural hearing loss, and premature ovarian insufficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75694">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344420"><div><strong>Methylmalonic aciduria, cblB type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344420</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344420">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344422"><div><strong>Methylmalonic aciduria, cblA type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344422</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344422">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344424"><div><strong>Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344424</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344424">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462826"><div><strong>Mitochondrial DNA depletion syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462826</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized in the majority of affected newborns by hypotonia, muscle atrophy, feeding difficulties, and lactic acidosis. Affected infants commonly manifest developmental delay / cognitive impairment, growth retardation / failure to thrive, hepatopathy, sensorineural hearing impairment, dystonia, and hypertonia. Notable findings in some affected individuals include hypertrophic cardiomyopathy, epilepsy, myoclonus, microcephaly, sleep disturbance, rhabdomyolysis, contractures, hypothermia, and/or hypoglycemia. Life span is shortened, with median survival of 20 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462826">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_478062"><div><strong>Multiple mitochondrial dysfunctions syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478062</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3276432</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple mitochondrial dysfunctions syndrome-1 (MMDS1) is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (Seyda et al., 2001). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions Syndrome See also MMDS2 (614299), caused by mutation in the BOLA3 gene (613183) on chromosome 2p13; MMDS3 (615330), caused by mutation in the IBA57 gene (615316) on chromosome 1q42; MMDS4 (616370), caused by mutation in the ISCA2 gene (615317) on chromosome 14q24; MMDS5 (617613), caused by mutation in the ISCA1 gene (611006) on chromosome 9q21; MMDS6 (617954), caused by mutation in the PMPCB gene (603131) on chromosome 7q22; MMDS7 (620423), caused by mutation in the GCSH gene (238330) on chromosome 16q23; MMDS8 (251900), caused by mutation in the FDX2 gene (614585) on chromosome 19p13; MMDS9A (617717) and MMDS9B (620887), both caused by mutation in the FDXR gene (103270) on chromosome 17q25.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478062">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482008"><div><strong>Multiple mitochondrial dysfunctions syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482008</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280378</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482008">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815495"><div><strong>Multiple mitochondrial dysfunctions syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815495</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple mitochondrial dysfunctions syndrome-3 (MMDS3) is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815495">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905660"><div><strong>Spasticity-ataxia-gait anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905660</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225178</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset spasticity with hyperglycinemia is an autosomal recessive disorder characterized by onset of slowly progressive spasticity that results in impaired gait in the first decade of life. Imaging of the central nervous system shows leukodystrophy and/or lesions in the upper spinal cord. More variable features include visual defects and mild learning disabilities. Serum glycine is increased, but CSF glycine is only mildly increased or normal; serum lactate is normal. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including SPAHGC, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905660">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1624694"><div><strong>Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1624694</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4540052</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NELABA is a severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. Some patients die in infancy (summary by Habarou et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1624694">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1773430"><div><strong>Mitochondrial complex 4 deficiency, nuclear type 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1773430</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 15 (MC4DN15) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show global developmental delay, poor feeding, short stature with microcephaly, proximal muscle weakness, and distal spasticity. Other manifestations include scoliosis, primary pulmonary hypertension, childhood-onset refractory seizures, and inability to walk. Brain imaging shows features consistent with Leigh syndrome (see 256000) and enlarged ventricles. Laboratory studies show increased serum and CSF lactate, as well as decreased levels and activity of mitochondrial respiratory complex IV (summary by Hallmann et al., 2016). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1773430">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1729504"><div><strong>Mitochondrial complex 4 deficiency, nuclear type 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1729504</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 19 (MC4DN19) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy. Serum lactate is increased; T2-weighted lesions in the medulla oblongata have also been reported. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (Renkema et al., 2017). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1729504">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1780479"><div><strong>Combined oxidative phosphorylation deficiency 52</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780479</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Combined oxidative phosphorylation deficiency-52 (COXPD52) is an autosomal recessive infantile mitochondrial complex II/III deficiency characterized by lactic acidemia, multiorgan system failure, and abnormal mitochondria. Intrafamilial variability has been reported (Farhan et al., 2014; Hershkovitz et al., 2021). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1780479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841116"><div><strong>Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841116</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Mitochondrial complex V deficiency nuclear type 4A (MC5DN4A) is an autosomal dominant metabolic disorder characterized by poor feeding and failure to thrive in early infancy. Laboratory studies show increased serum lactate, alanine, and ammonia, suggesting mitochondrial dysfunction. Some affected individuals show spontaneous resolution of these symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity; these neurologic deficits are persistent (Lines et al., 2021, Zech et al., 2022). For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, nuclear types, see MC5DN1 (604273).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1841116">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841222"><div><strong>Multiple mitochondrial dysfunctions syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841222</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Mitochondrial dysfunctions syndrome-7 (MMDS7) is an autosomal recessive disorder characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems (Arribas-Carreira et al., 2023). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1841222">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 52</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1624694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperglycinemia, transient neonatal</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria, cblA type</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria, cblB type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1773430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 4 deficiency, nuclear type 15</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1729504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 4 deficiency, nuclear type 19</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841116" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 9</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_478062" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial dysfunctions syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial dysfunctions syndrome 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815495" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial dysfunctions syndrome 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial dysfunctions syndrome 7</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Propionic acidemia</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity-ataxia-gait anomalies syndrome</a></div></span></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/36513404">Clozapine for the treatment of pediatric encephalopathy associated with nonketotic hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiménez-Fernández S,
|
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Gurpegui M,
|
||
de Leon J,
|
||
Gutiérrez-Rojas L</span><br />
|
||
<span class="medgenPMjournal">Rev Psiquiatr Salud Ment (Engl Ed)</span>
|
||
2022 Oct-Dec;15(4):287-289.
|
||
doi: 10.1016/j.rpsmen.2022.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36513404" target="_blank">36513404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2308039">Prenatal diagnosis of nonketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayasaka K,
|
||
Tada K,
|
||
Fueki N,
|
||
Aikawa J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1990 Mar;116(3):444-5.
|
||
doi: 10.1016/s0022-3476(05)82841-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2308039" target="_blank">2308039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6015889">Treatment of hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nyhan WL</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1967 Jan;113(1):129-33.
|
||
doi: 10.1001/archpedi.1967.02090160179028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6015889" target="_blank">6015889</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperglycinemia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (14)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33890291">Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Majethia P,
|
||
Somashekar PH,
|
||
Hebbar M,
|
||
Kadavigere R,
|
||
Praveen BK,
|
||
Girisha KM,
|
||
Shukla A</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Aug;100(2):201-205.
|
||
Epub 2021 May 3
|
||
doi: 10.1111/cge.13970.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33890291" target="_blank">33890291</a><a href="/pmc/articles/PMC9990824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25476511">Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Longo MG,
|
||
Vairo F,
|
||
Souza CF,
|
||
Giugliani R,
|
||
Vedolin LM</span><br />
|
||
<span class="medgenPMjournal">Neuroimaging Clin N Am</span>
|
||
2015 Feb;25(1):31-51.
|
||
doi: 10.1016/j.nic.2014.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25476511" target="_blank">25476511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2919871">Transient neonatal hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schiffmann R,
|
||
Kaye EM,
|
||
Willis JK 3rd,
|
||
Africk D,
|
||
Ampola M</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1989 Feb;25(2):201-3.
|
||
doi: 10.1002/ana.410250218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2919871" target="_blank">2919871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3092206">Prenatal diagnosis of non-ketotic hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Applegarth DA,
|
||
Levy HL,
|
||
Shih VE,
|
||
McGillivray B,
|
||
Wong JT,
|
||
Toone JR,
|
||
Kirby LT</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1986 Jul-Aug;6(4):257-63.
|
||
doi: 10.1002/pd.1970060405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3092206" target="_blank">3092206</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8230">Organic acidemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahoney MJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
1976 Mar;3(1):61-78.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8230" target="_blank">8230</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperglycinemia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (73)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28370868">Neonatal hypotonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
2017 Apr;53(4):425.
|
||
doi: 10.1111/jpc.2_13302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28370868" target="_blank">28370868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27362913">The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR 2nd,
|
||
Swanson MA,
|
||
Kronquist K,
|
||
Acquaviva C,
|
||
Hutchin T,
|
||
Rodríguez-Pombo P,
|
||
Väisänen ML,
|
||
Spector E,
|
||
Creadon-Swindell G,
|
||
Brás-Goldberg AM,
|
||
Rahikkala E,
|
||
Moilanen JS,
|
||
Mahieu V,
|
||
Matthijs G,
|
||
Bravo-Alonso I,
|
||
Pérez-Cerdá C,
|
||
Ugarte M,
|
||
Vianey-Saban C,
|
||
Scharer GH,
|
||
Van Hove JL</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2017 Jan;19(1):104-111.
|
||
Epub 2016 Jun 30
|
||
doi: 10.1038/gim.2016.74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27362913" target="_blank">27362913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26179960">Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swanson MA,
|
||
Coughlin CR Jr,
|
||
Scharer GH,
|
||
Szerlong HJ,
|
||
Bjoraker KJ,
|
||
Spector EB,
|
||
Creadon-Swindell G,
|
||
Mahieu V,
|
||
Matthijs G,
|
||
Hennermann JB,
|
||
Applegarth DA,
|
||
Toone JR,
|
||
Tong S,
|
||
Williams K,
|
||
Van Hove JL</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2015 Oct;78(4):606-18.
|
||
Epub 2015 Aug 10
|
||
doi: 10.1002/ana.24485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26179960" target="_blank">26179960</a><a href="/pmc/articles/PMC4767401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622201">Epilepsy in inborn errors of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bahi-Buisson N,
|
||
Dulac O</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;111:533-41.
|
||
doi: 10.1016/B978-0-444-52891-9.00056-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622201" target="_blank">23622201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21496588">Hyperglycemic nonketotic states and other metabolic imbalances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ondo WG</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2011;100:287-91.
|
||
doi: 10.1016/B978-0-444-52014-2.00021-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21496588" target="_blank">21496588</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperglycinemia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (218)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39423724">The role of NMDA-receptor type glutamatergic antagonists dextromethorphan or ketamine in the treatment of nonketotic hyperglycinemia: A critical reassessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Hove JLK</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 Nov;143(3):108594.
|
||
Epub 2024 Oct 12
|
||
doi: 10.1016/j.ymgme.2024.108594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39423724" target="_blank">39423724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19812426">Early myoclonic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamate M,
|
||
Mahantshetti N,
|
||
Chetal V</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2009 Sep;46(9):804-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19812426" target="_blank">19812426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6766992">Dipropylacetate and aminoaciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Similä S,
|
||
von Wendt L,
|
||
Linna SL</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
1980 Feb;45(1):83-6.
|
||
doi: 10.1016/s0022-510x(80)80009-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6766992" target="_blank">6766992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1085353">Letter: Failure of Leucovorin therapy in nonketotic hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Speilberg SP,
|
||
Lucky AW,
|
||
Schulman JD,
|
||
Kramer LI,
|
||
Hefner L,
|
||
Goodman SI</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1976 Oct;89(4):681-2.
|
||
doi: 10.1016/s0022-3476(76)80421-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1085353" target="_blank">1085353</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5352828">Nonketotic hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baumgartner R,
|
||
Ando T,
|
||
Nyhan WL</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1969 Dec;75(6):1022-30.
|
||
doi: 10.1016/s0022-3476(69)80341-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5352828" target="_blank">5352828</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperglycinemia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (82)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33269555">GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mademont-Soler I,
|
||
Casellas-Vidal D,
|
||
Trujillo A,
|
||
Espuña-Capote N,
|
||
Maroto A,
|
||
García-González MDM,
|
||
Ruiz MD,
|
||
Diego-Álvarez D,
|
||
Queralt X,
|
||
Perapoch J,
|
||
Obón M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Feb;185(2):476-485.
|
||
Epub 2020 Dec 2
|
||
doi: 10.1002/ajmg.a.61996.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33269555" target="_blank">33269555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26179960">Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swanson MA,
|
||
Coughlin CR Jr,
|
||
Scharer GH,
|
||
Szerlong HJ,
|
||
Bjoraker KJ,
|
||
Spector EB,
|
||
Creadon-Swindell G,
|
||
Mahieu V,
|
||
Matthijs G,
|
||
Hennermann JB,
|
||
Applegarth DA,
|
||
Toone JR,
|
||
Tong S,
|
||
Williams K,
|
||
Van Hove JL</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2015 Oct;78(4):606-18.
|
||
Epub 2015 Aug 10
|
||
doi: 10.1002/ana.24485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26179960" target="_blank">26179960</a><a href="/pmc/articles/PMC4767401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21803516">Disorders of amino acid metabolism associated with epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee WT</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2011 Oct;33(9):745-52.
|
||
Epub 2011 Jul 30
|
||
doi: 10.1016/j.braindev.2011.06.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21803516" target="_blank">21803516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2919871">Transient neonatal hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schiffmann R,
|
||
Kaye EM,
|
||
Willis JK 3rd,
|
||
Africk D,
|
||
Ampola M</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1989 Feb;25(2):201-3.
|
||
doi: 10.1002/ana.410250218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2919871" target="_blank">2919871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8230">Organic acidemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahoney MJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
1976 Mar;3(1):61-78.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8230" target="_blank">8230</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperglycinemia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (98)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33269555">GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mademont-Soler I,
|
||
Casellas-Vidal D,
|
||
Trujillo A,
|
||
Espuña-Capote N,
|
||
Maroto A,
|
||
García-González MDM,
|
||
Ruiz MD,
|
||
Diego-Álvarez D,
|
||
Queralt X,
|
||
Perapoch J,
|
||
Obón M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Feb;185(2):476-485.
|
||
Epub 2020 Dec 2
|
||
doi: 10.1002/ajmg.a.61996.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33269555" target="_blank">33269555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26179960">Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swanson MA,
|
||
Coughlin CR Jr,
|
||
Scharer GH,
|
||
Szerlong HJ,
|
||
Bjoraker KJ,
|
||
Spector EB,
|
||
Creadon-Swindell G,
|
||
Mahieu V,
|
||
Matthijs G,
|
||
Hennermann JB,
|
||
Applegarth DA,
|
||
Toone JR,
|
||
Tong S,
|
||
Williams K,
|
||
Van Hove JL</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2015 Oct;78(4):606-18.
|
||
Epub 2015 Aug 10
|
||
doi: 10.1002/ana.24485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26179960" target="_blank">26179960</a><a href="/pmc/articles/PMC4767401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10328279">Neonatal type of nonketotic hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu FL,
|
||
Wang PJ,
|
||
Hwu WL,
|
||
Tsou Yau KI,
|
||
Wang TR</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1999 Apr;20(4):295-300.
|
||
doi: 10.1016/s0887-8994(98)00157-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10328279" target="_blank">10328279</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7471513">Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">von Wendt L,
|
||
Alanko H,
|
||
Sorri M,
|
||
Toivakka E,
|
||
Saukkonen AL,
|
||
Similä S</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1981 Feb;19(2):94-100.
|
||
doi: 10.1111/j.1399-0004.1981.tb00677.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7471513" target="_blank">7471513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6766992">Dipropylacetate and aminoaciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Similä S,
|
||
von Wendt L,
|
||
Linna SL</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
1980 Feb;45(1):83-6.
|
||
doi: 10.1016/s0022-510x(80)80009-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6766992" target="_blank">6766992</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperglycinemia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (74)</a></div></div>
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