{"orpha":35706,"name":"Glutaric acidemia type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Glutaric aciduria type 3","Glutaryl-CoA oxidase deficiency"],"definition":"A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35706/","orphanet_url":"https://www.orpha.net/en/disease/detail/35706","names":{"fr":{"name":"Acidémie glutarique type 3","synonyms":["Acidurie glutarique type 3","Déficit en glutaryl-CoA oxydase"],"definition":"Erreur innée du métabolisme rare caractérisée par une excrétion urinaire d'acide glutarique anormalement élevée, due à un déficit en glutaryl-CoA oxydase péroxisomale. Aucune association avec un phénotype clinique spécifique n'a été rapportée."},"de":{"name":"Glutarazidurie Typ 3","synonyms":["Glutarazidämie Typ 3","Glutaryl-CoA-Oxidase-Mangel"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch eine abnorm hohe Urinausscheidung von Glutarsäure aufgrund eines peroxisomalen Glutaryl-CoA-Oxidase-Mangels gekennzeichnet ist. Es besteht kein Zusammenhang mit einem spezifischen klinischen Phänotyp."},"es":{"name":"Acidemia glutárica tipo 3","synonyms":["Aciduria glutárica tipo 3","Deficiencia de glutaril-CoA oxidasa"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por una elevada excreción urinaria de ácido glutárico debido a la deficiencia de glutaril-CoA oxidasa peroxisomal. No se ha asociado con un fenotipo clínico específico."},"it":{"name":"Acidemia glutarica, tipo 3","synonyms":["Aciduria glutarica, tipo 3","Deficit di glutaril-CoA ossidasi"],"definition":"Si tratta di un errore congenito raro del metabolismo, caratterizzato da livelli particolarmente elevati di acido glutarico nelle urine, secondari ad un deficit di glutaril-CoA ossidasi perossisomiale. Non si associa ad un fenotipo clinico specifico."},"nl":{"name":"Glutaaracidemie type 3","synonyms":["Glutaaracidurie type 3","Glutaryl-CoA-oxidasedeficiëntie"],"definition":"Een zeldzaam aangeboren defect van stofwisseling, gekarakteriseerd door abnormaal hoge excretie van glutaarzuur in urine door deficiëntie van peroxisomaal glutaryl-CoA-oxidase. Er is geen associatie met een specifiek klinisch fenotype."},"pt":{"name":"Deficiência de glutaril-CoA oxidase","synonyms":["Acidúria glutárica tipo 3"]},"pl":{"name":"Kwasica glutarylowa typu 3","synonyms":["Acyduria glutarowa typu 3","Niedobór oksydazy glutarylo-CoA"]},"cs":{"name":"Glutarová acidémie typu 3","synonyms":["Glutarová acidurie typu 3","Deficit glutaryl-CoA oxidázy"]},"uk":{"name":"Глутарова ацидемія, тип 3","synonyms":["Глутарова ацидурія типу 3","Дефіцит глутарил-КоА-оксидази"],"definition":"A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype."},"zh":{"name":"戊二酸血症3型","synonyms":["戊二酰辅酶A氧化酶缺乏"]},"tr":{"name":"Glutarik asidemi tip 3","synonyms":["Glutarik asidüri tip 3","Glutaryl-CoA oksidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"231690","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"627751573"},{"source":"MONDO","code":"0009283","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562818","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342873","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12469","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309810,"name":"Disorder of peroxisomal alpha-, beta- and omega-oxidation","classifications":[150,156,233]},{"orpha":225696,"name":"Energy metabolism disorder with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SUGCT","name":"succinyl-CoA:glutarate-CoA transferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18926513[PMID]","hgnc":"16001","ensembl":"ENSG00000175600","omim":"609187","loci":["7p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-01","source":"28766179[PMID]_32779420[PMID]_29421601[PMID]","terms":[{"hpo":"HP:0003150","label":"Glutaric aciduria","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011021","label":"Abnormality of circulating enzyme level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003530","label":"Glutaric acidemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001993","label":"Ketoacidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null}]}}