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<meta name="keywords" content="5-oxoprolinuria, 5-oxoprolinuria due to glutathione synthetase deficiency, C0398746, deficiency of glutathione synthase, deficiency of glutathione synthetase, disease or syndrome, glutathione synthetase deficiency, glutathione synthetase deficiency with 5-oxoprolinuria, gluthathione synthetase deficiency, gss, gssd, pyroglutamic aciduria, pyroglutamicaciduria, reduced glutathione synthetase level, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS) or 5-oxoprolinase (OPLAH; 614243). Glutathione synthetase deficiency (GSSD) is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001). See 5-oxoprolinuria due to 5-oxoprolinase deficiency (260005)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=97988
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ConceptID=C0398746
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glutathione synthetase deficiency with 5-oxoprolinuria</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97988</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."><span class="highlight" style="background-color:">C0398746</span></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>5-Oxoprolinuria; 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY; Gluthathione synthetase deficiency; PYROGLUTAMIC ACIDURIA; Reduced glutathione synthetase level</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Deficiency of glutathione synthetase (124706000); Deficiency of glutathione synthase (124706000); Glutathione synthetase deficiency (234589002); Pyroglutamicaciduria (234589002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GSS - ID: 2937 - NCBI Gene" href="/gene/2937" class="medgenPMinfo">GSS</a> (20q11.22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003343">HP:0003343</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009947" target="_blank">MONDO:0009947</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/266130" target="_blank">266130</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289846">ORPHA289846</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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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>
|
||
<div class="portlet_content ln">5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS) or 5-oxoprolinase (OPLAH; 614243). Glutathione synthetase deficiency (GSSD) is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001). See 5-oxoprolinuria due to 5-oxoprolinase deficiency (260005). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components.<br /><br />Glutathione synthetase deficiency can be classified into three types: mild, moderate, and severe. Mild glutathione synthetase deficiency usually results in the destruction of red blood cells (hemolytic anemia). In addition, affected individuals may release large amounts of a compound called 5-oxoproline in their urine (5-oxoprolinuria). This compound builds up when glutathione is not processed correctly in cells.<br /><br />Individuals with moderate glutathione synthetase deficiency may experience symptoms beginning shortly after birth including hemolytic anemia, 5-oxoprolinuria, and elevated acidity in the blood and tissues (metabolic acidosis).<br /><br />In addition to the features present in moderate glutathione synthetase deficiency, individuals affected by the severe form of this disorder may experience neurological symptoms. These problems may include seizures; a generalized slowing down of physical reactions, movements, and speech (psychomotor retardation); intellectual disability; and a loss of coordination (ataxia). Some people with severe glutathione synthetase deficiency also develop recurrent bacterial infections. <a target="_blank" href="https://medlineplus.gov/genetics/condition/glutathione-synthetase-deficiency">https://medlineplus.gov/genetics/condition/glutathione-synthetase-deficiency</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1641941"><div><strong>Increased level of L-pyroglutamic acid in urine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641941</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.">C4703642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in the level of L-pyroglutamic acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641941">Feature record</a> | <a href="/medgen?term=%22Increased%20level%20of%20L-pyroglutamic%20acid%20in%20urine%22%5BClinical%20Features%5D%20OR%201641941%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_658719"><div><strong>Spastic tetraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>658719</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.">C0575059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic weakness affecting all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/658719">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraparesis%22%5BClinical%20Features%5D%20OR%20658719%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871301"><div><strong>Psychotic mentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871301</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.">C4025789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871301">Feature record</a> | <a href="/medgen?term=%22Psychotic%20mentation%22%5BClinical%20Features%5D%20OR%20871301%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1642960"><div><strong>Intention tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642960</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.">C4551520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642960">Feature record</a> | <a href="/medgen?term=%22Intention%20tremor%22%5BClinical%20Features%5D%20OR%201642960%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1916"><div><strong>Hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1916</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.">C0002878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of anemia caused by premature destruction of red blood cells (hemolysis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1916">Feature record</a> | <a href="/medgen?term=%22Hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201916%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163121"><div><strong>Neutropenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163121</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.">C0853697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low number of neutrophils in the peripheral blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163121">Feature record</a> | <a href="/medgen?term=%22Neutropenia%22%5BClinical%20Features%5D%20OR%20163121%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_97988"><div><strong>Glutathione synthetase deficiency with 5-oxoprolinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97988</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."><span class="highlight" style="background-color:">C0398746</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS) or 5-oxoprolinase (OPLAH; 614243). Glutathione synthetase deficiency (GSSD) is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001). See 5-oxoprolinuria due to 5-oxoprolinase deficiency (260005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/97988">Feature record</a> | <a href="/medgen?term=%22Glutathione%20synthetase%20deficiency%20with%205-oxoprolinuria%22%5BClinical%20Features%5D%20OR%2097988%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488930"><div><strong>Chronic metabolic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488930</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.">C0740749</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Longstanding metabolic acidosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488930">Feature record</a> | <a href="/medgen?term=%22Chronic%20metabolic%20acidosis%22%5BClinical%20Features%5D%20OR%20488930%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1643295"><div><strong>Pigmentary retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643295</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.">C4551715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643295">Feature record</a> | <a href="/medgen?term=%22Pigmentary%20retinopathy%22%5BClinical%20Features%5D%20OR%201643295%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic metabolic acidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_97988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glutathione synthetase deficiency with 5-oxoprolinuria</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary retinopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1641941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased level of L-pyroglutamic acid in urine</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutropenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intention tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871301" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Psychotic mentation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_658719" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraparesis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<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><li><a href="#tabORDO">Orphanet</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN030166[DISCUI]&test_type=Clinical" ref="ncbi_uid=1843504">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1843504" ref="ncbi_uid=1843504">V</a></span></span><span class="TLline"><a href="/medgen/1843504" ref="tree=GTR&ncbi_uid=1843504&link_uid=1843504" title="View MedGen record for 'Inherited glutathione synthetase deficiency'">Inherited glutathione synthetase deficiency</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0398746[DISCUI]&test_type=Clinical" ref="ncbi_uid=97988">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=97988" target="_blank" href="/omim/601002">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=97988" ref="ncbi_uid=97988">V</a></span></span><span class="TLline">Glutathione synthetase deficiency with 5-oxoprolinuria</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1856399[DISCUI]&test_type=Clinical" ref="ncbi_uid=343541">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343541" target="_blank" href="/omim/231900">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343541" ref="ncbi_uid=343541">V</a></span></span><span class="TLline"><a href="/medgen/343541" ref="tree=GTR&ncbi_uid=343541&link_uid=343541" title="View MedGen record for 'Glutathione synthetase deficiency without 5-oxoprolinuria'">Glutathione synthetase deficiency without 5-oxoprolinuria</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1841674" ref="tree=MeSH" title="MedGen record for Abnormal enzyme concentration or activity">Abnormal enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/1841554" ref="tree=MeSH" title="MedGen record for Abnormal circulating enzyme concentration or activity">Abnormal circulating enzyme concentration or activity</a></span><ul><li><span class="matched_ds">Glutathione synthetase deficiency with 5-oxoprolinuria</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=20764&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Glutathione synthetase deficiency with 5-oxoprolinuria</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_97988"><div><strong>Glutathione synthetase deficiency with 5-oxoprolinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97988</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."><span class="highlight" style="background-color:">C0398746</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS) or 5-oxoprolinase (OPLAH; 614243). Glutathione synthetase deficiency (GSSD) is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001). See 5-oxoprolinuria due to 5-oxoprolinase deficiency (260005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/97988">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343541"><div><strong>Glutathione synthetase deficiency without 5-oxoprolinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343541</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.">C1856399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Two forms of glutathione synthetase deficiency have been described: a mild form, here referred to as congenital nonspherocytic hemolytic anemia-6 (CNSHA6), and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement (266130).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343541">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_97988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glutathione synthetase deficiency with 5-oxoprolinuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glutathione synthetase deficiency without 5-oxoprolinuria</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/15717202">Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Njålsson R,
|
||
Ristoff E,
|
||
Carlsson K,
|
||
Winkler A,
|
||
Larsson A,
|
||
Norgren S</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2005 Apr;116(5):384-9.
|
||
Epub 2005 Feb 17
|
||
doi: 10.1007/s00439-005-1255-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15717202" target="_blank">15717202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7451657">Nitrofurantoin cytotoxicity. In vitro assessment of risk based on glutathione metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spielberg SP,
|
||
Gordon GB</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
1981 Jan;67(1):37-41.
|
||
doi: 10.1172/JCI110030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7451657" target="_blank">7451657</a><a href="/pmc/articles/PMC371569" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(glutathione%20synthetase%20deficiency%20with%205-oxoprolinuria)%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 (2)</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/37050856">Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ekuni S,
|
||
Hirayama K,
|
||
Nagasaka M,
|
||
Osumi K,
|
||
Kondo H,
|
||
Nakahara E,
|
||
Shimojima Yamamoto K,
|
||
Kanno H,
|
||
Katayama Y</span><br />
|
||
<span class="medgenPMjournal">Am J Case Rep</span>
|
||
2023 Apr 13;24:e938396.
|
||
doi: 10.12659/AJCR.938396.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37050856" target="_blank">37050856</a><a href="/pmc/articles/PMC10106969" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26984560">Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atwal PS,
|
||
Medina CR,
|
||
Burrage LC,
|
||
Sutton VR</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2016 Jul;61(7):669-72.
|
||
Epub 2016 Mar 17
|
||
doi: 10.1038/jhg.2016.20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26984560" target="_blank">26984560</a><a href="/pmc/articles/PMC4961564" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15990954">Glutathione synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Njålsson R</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2005 Sep;62(17):1938-45.
|
||
doi: 10.1007/s00018-005-5163-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15990954" target="_blank">15990954</a><a href="/pmc/articles/PMC11139123" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12638941">Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ristoff E,
|
||
Hebert C,
|
||
Njålsson R,
|
||
Norgren S,
|
||
Rooyackers O,
|
||
Larsson A</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2002 Nov;25(7):577-84.
|
||
doi: 10.1023/a:1022095324407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12638941" target="_blank">12638941</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7460474">Glutathione synthetase-deficient lymphocytes and acetaminophen toxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spielberg SP,
|
||
Gordon GB</span><br />
|
||
<span class="medgenPMjournal">Clin Pharmacol Ther</span>
|
||
1981 Jan;29(1):51-5.
|
||
doi: 10.1038/clpt.1981.9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7460474" target="_blank">7460474</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glutathione%20synthetase%20deficiency%20with%205-oxoprolinuria%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28974423">5-Oxoprolinuria in hyperammonemic encephalopathy: Coincidence or worsening factor?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rousseau G,
|
||
Signolet I,
|
||
Denis MC,
|
||
Chao de la Barca JM,
|
||
Mahieu R,
|
||
Letournel F,
|
||
Reynier P,
|
||
Simard G</span><br />
|
||
<span class="medgenPMjournal">Clin Biochem</span>
|
||
2017 Dec;50(18):1115-1117.
|
||
Epub 2017 Sep 30
|
||
doi: 10.1016/j.clinbiochem.2017.09.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28974423" target="_blank">28974423</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28272598">Forging Ahead.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anklesaria Z,
|
||
Hunt D,
|
||
Shah M,
|
||
Sharpe B,
|
||
Monash B</span><br />
|
||
<span class="medgenPMjournal">J Hosp Med</span>
|
||
2017 Mar;12(3):188-192.
|
||
doi: 10.12788/jhm.2706.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28272598" target="_blank">28272598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26018494">More than a mnemonic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pereda C,
|
||
Weppner WG,
|
||
Balinger A,
|
||
Goldberger ZD,
|
||
Baudendistel TE</span><br />
|
||
<span class="medgenPMjournal">J Hosp Med</span>
|
||
2015 Aug;10(8):547-50.
|
||
Epub 2015 May 27
|
||
doi: 10.1002/jhm.2387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26018494" target="_blank">26018494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25851806">Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
|
||
Ding Y,
|
||
Liu Y,
|
||
Ma Y,
|
||
Song J,
|
||
Wang Q,
|
||
Yang Y</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2015 Nov;37(10):952-9.
|
||
Epub 2015 Apr 4
|
||
doi: 10.1016/j.braindev.2015.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25851806" target="_blank">25851806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15990954">Glutathione synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Njålsson R</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2005 Sep;62(17):1938-45.
|
||
doi: 10.1007/s00018-005-5163-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15990954" target="_blank">15990954</a><a href="/pmc/articles/PMC11139123" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glutathione%20synthetase%20deficiency%20with%205-oxoprolinuria%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 (37)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30872293">Lesson of the month 1: A rare adverse reaction between flucloxacillin and paracetamol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osborne W,
|
||
Chavda A,
|
||
Katritsis G,
|
||
Friedland JS</span><br />
|
||
<span class="medgenPMjournal">Clin Med (Lond)</span>
|
||
2019 Mar;19(2):127-128.
|
||
doi: 10.7861/clinmedicine.19-2-127.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30872293" target="_blank">30872293</a><a href="/pmc/articles/PMC6454371" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27339215">Metabolic acidosis and 5-oxoprolinuria induced by flucloxacillin and acetaminophen: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lanoy C,
|
||
Bouckaert Y</span><br />
|
||
<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2016 Jun 23;10(1):184.
|
||
doi: 10.1186/s13256-016-0964-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27339215" target="_blank">27339215</a><a href="/pmc/articles/PMC4918112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26018494">More than a mnemonic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pereda C,
|
||
Weppner WG,
|
||
Balinger A,
|
||
Goldberger ZD,
|
||
Baudendistel TE</span><br />
|
||
<span class="medgenPMjournal">J Hosp Med</span>
|
||
2015 Aug;10(8):547-50.
|
||
Epub 2015 May 27
|
||
doi: 10.1002/jhm.2387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26018494" target="_blank">26018494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7707700">High-dose vitamin E therapy in glutathione synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pejaver RK,
|
||
Watson AH</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1994;17(6):749-50.
|
||
doi: 10.1007/BF00712019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7707700" target="_blank">7707700</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4047346">Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larsson A,
|
||
Wachtmeister L,
|
||
von Wendt L,
|
||
Andersson R,
|
||
Hagenfeldt L,
|
||
Herrin KM</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1985 Aug;16(3):131-6.
|
||
doi: 10.1055/s-2008-1052557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4047346" target="_blank">4047346</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glutathione%20synthetase%20deficiency%20with%205-oxoprolinuria%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 (18)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29340523">A case of severe glutathione synthetase deficiency with novel GSS mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xia H,
|
||
Ye J,
|
||
Wang L,
|
||
Zhu J,
|
||
He Z</span><br />
|
||
<span class="medgenPMjournal">Braz J Med Biol Res</span>
|
||
2018 Jan 11;51(3):e6853.
|
||
doi: 10.1590/1414-431X20176853.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29340523" target="_blank">29340523</a><a href="/pmc/articles/PMC5769757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28974423">5-Oxoprolinuria in hyperammonemic encephalopathy: Coincidence or worsening factor?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rousseau G,
|
||
Signolet I,
|
||
Denis MC,
|
||
Chao de la Barca JM,
|
||
Mahieu R,
|
||
Letournel F,
|
||
Reynier P,
|
||
Simard G</span><br />
|
||
<span class="medgenPMjournal">Clin Biochem</span>
|
||
2017 Dec;50(18):1115-1117.
|
||
Epub 2017 Sep 30
|
||
doi: 10.1016/j.clinbiochem.2017.09.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28974423" target="_blank">28974423</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26984560">Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atwal PS,
|
||
Medina CR,
|
||
Burrage LC,
|
||
Sutton VR</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2016 Jul;61(7):669-72.
|
||
Epub 2016 Mar 17
|
||
doi: 10.1038/jhg.2016.20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26984560" target="_blank">26984560</a><a href="/pmc/articles/PMC4961564" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25166299">Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ben Ameur S,
|
||
Aloulou H,
|
||
Nasrallah F,
|
||
Kamoun T,
|
||
Kaabachi N,
|
||
Hachicha M</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2015 Feb;34(1):18-20.
|
||
Epub 2014 Aug 28
|
||
doi: 10.3109/15513815.2014.947543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25166299" target="_blank">25166299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17397529">Inborn errors in the metabolism of glutathione.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ristoff E,
|
||
Larsson A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Mar 30;2:16.
|
||
doi: 10.1186/1750-1172-2-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17397529" target="_blank">17397529</a><a href="/pmc/articles/PMC1852094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glutathione%20synthetase%20deficiency%20with%205-oxoprolinuria%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28267090">A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soylu Ustkoyuncu P,
|
||
Mutlu FT,
|
||
Kiraz A,
|
||
Tag Balkis Z,
|
||
Yel S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2018 Jan;40(1):e45-e49.
|
||
doi: 10.1097/MPH.0000000000000811.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28267090" target="_blank">28267090</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24111553">What is the clinical significance of 5-oxoproline (pyroglutamic acid) in high anion gap metabolic acidosis following paracetamol (acetaminophen) exposure?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liss DB,
|
||
Paden MS,
|
||
Schwarz ES,
|
||
Mullins ME</span><br />
|
||
<span class="medgenPMjournal">Clin Toxicol (Phila)</span>
|
||
2013 Nov;51(9):817-27.
|
||
Epub 2013 Oct 11
|
||
doi: 10.3109/15563650.2013.844822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24111553" target="_blank">24111553</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17397529">Inborn errors in the metabolism of glutathione.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ristoff E,
|
||
Larsson A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Mar 30;2:16.
|
||
doi: 10.1186/1750-1172-2-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17397529" target="_blank">17397529</a><a href="/pmc/articles/PMC1852094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15717202">Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Njålsson R,
|
||
Ristoff E,
|
||
Carlsson K,
|
||
Winkler A,
|
||
Larsson A,
|
||
Norgren S</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2005 Apr;116(5):384-9.
|
||
Epub 2005 Feb 17
|
||
doi: 10.1007/s00439-005-1255-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15717202" target="_blank">15717202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/465367">Oxidative damage to neutrophils in glutathione synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spielberg SP,
|
||
Boxer LA,
|
||
Oliver JM,
|
||
Allen JM,
|
||
Schulman JD</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
1979 Jun;42(2):215-23.
|
||
doi: 10.1111/j.1365-2141.1979.tb01126.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/465367" target="_blank">465367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glutathione%20synthetase%20deficiency%20with%205-oxoprolinuria%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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<div class=" bottom">
|
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|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0398746%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0398746%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0398746%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0398746%5bDISCUI%5d" target="_blank">See all (12)</a></total></li>
|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=266130" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=289846" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Glutathione%20synthetase%20deficiency%20with%205-oxoprolinuria" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(glutathione%20synthetase%20deficiency%20with%205-oxoprolinuria)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601002" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2937[geneid]" target="_blank">View GSS variations in ClinVar</a></li><li><a href="/nuccore/209977061" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=266130" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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|
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<a href="/pubmed/clinical?term=Glutathione%20synthetase%20deficiency%20with%205-oxoprolinuria" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=97988" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0398746[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca72e6a68b6b5afc9cff36">Glutathione synthetase deficiency with 5-oxoprolinuria</a>
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