{"orpha":25,"name":"Glutaryl-CoA dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GA1","GCDHD","Glutaric acidemia type 1","Glutaric aciduria type 1","Glutaryl-coenzyme A dehydrogenase deficiency"],"definition":"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-25/","orphanet_url":"https://www.orpha.net/en/disease/detail/25","names":{"fr":{"name":"Déficit en glutaryl-CoA déshydrogénase","synonyms":["Acidurie glutarique type 1","Acidémie glutarique type 1","Déficit en glutaryl-coenzyme A déshydrogénase","GA1","GCDHD"],"definition":"Le déficit en glutaryl-CoA déshydrogénase (DGCDH) est une maladie neurométabolique autosomique récessive caractérisée sur le plan clinique par des crises encéphalopathiques conduisant à des lésions striatales et à un trouble sévère du mouvement à type dyskinétique dystonique."},"de":{"name":"Glutaryl-CoA-Dehydrogenase-Mangel","synonyms":["GA1","GCDHD","Glutarazidurie Typ 1","Glutarazidämie Typ 1","Glutaryl-Coenzym A -Dehydrogenase-Mangel"],"definition":"Der Glutaryl-CoA-Dehydrogenase (GCDH)-Mangel (Glutarazidurie Typ I, GA1) ist eine autosomal-rezessiv vererbte neurometabolische Störung und klinisch gekennzeichnet durch enzephalopathische Krisen mit Striatum-Läsionen und schwerer dystonisch-dyskinetischer Bewegungsstörung."},"es":{"name":"Deficiencia de glutaril-CoA deshidrogenasa","synonyms":["Acidemia glutárica tipo 1","Aciduria glutárica tipo 1","Deficiencia de glutaril coenzima A deshidrogenasa","GA1","GCDHD"],"definition":"El déficit de glutaril-CoA deshidrogenasa (GCDH) (GDD) es un trastorno neurometabólico autosómico recesivo que se caracteriza clínicamente por crisis encefalopáticas que dan lugar a lesiones estriatales y trastornos del movimiento discinéticos distónicos graves."},"it":{"name":"Deficit di glutaril-CoA deidrogenasi","synonyms":["Acidemia glutarica, tipo 1","Aciduria glutarica, tipo 1","Deficit di glutaril-Coenzima A deidrogenasi","GA1","GCDHD"],"definition":"Il deficit di glutaril-CoA deidrogenasi (GCDH) (GDD) è una patologia neurometabolica autosomica recessiva caratterizzata, clinicamente, da crisi encefalopatiche con conseguente lesione striatale e gravi movimenti distonici e discinetici."},"nl":{"name":"Glutaryl-CoA-dehydrogenasedeficiëntie","synonyms":["GA1","GCDHD","Glutaaracidemie type 1","Glutaaracidurie type 1","Glutaarzuuracidemie type 1","Glutaarzuuracidurie type 1","Glutaryl-CoA dehydrogenasedeficiëntie","Glutaryl-co-enzym A dehydrogenase-deficiëntie"],"definition":"Glutaryl-CoA-dehydrogenase (GCDH) -deficiëntie (GDD) is een autosomaal recessieve neurometabole aandoening en wordt klinisch gekenmerkt door encefalopathische crises die resulteren in een letsel van het striatum en een ernstige dystone, dyskinetische bewegingsstoornis."},"pt":{"name":"Deficiência de glutaril-CoA desidrogenase","synonyms":["Acidúria glutárica tipo 1"],"definition":"A deficiência de glutaril-CoA desidrogenase (GCDH) (GDD) é uma doença neurometabólica autossómica recessiva caracterizada clinicamente por crises encefalopáticas que resultam em lesão estriatal e numa perturbação grave do movimento distónico-discinético."},"pl":{"name":"Niedobór dehydrogenazy glutarylo-CoA","synonyms":["Acyduria glutarowa typu 1","GA1","GCDHD","Kwasica glutarowa typu 1","Niedobór dehydrogenazy glutarylo-koenzymu A"]},"cs":{"name":"Deficit glutaryl-CoA dehydrogenázy","synonyms":["GA1","GCDHD","Glutarová acidémie, typ 1","Glutarová acidurie, typ I","Deficit glutaryl-koenzym A dehydrogenázy"]},"uk":{"name":"Дефіцит глутарил-КоА-дегідрогенази","synonyms":["GA1","GCDHD","Глутарова ацидемія типу 1","Глутарова ацидурія типу 1","Дефіцит глутарил-коензиму А дегідрогенази"],"definition":"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder."},"zh":{"name":"戊二酰-辅酶A脱氢酶缺乏","synonyms":["戊二酰脱氢酶辅酶A缺乏"]},"tr":{"name":"Glutaril-KoA dehidrogenaz eksikliği","synonyms":["GA1","GCDHD","Glutarik asidemi tip 1","Glutarik asidüri tip 1","Glutaril-koenzim A dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"231670","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.E1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1749323401"},{"source":"MONDO","code":"0009281","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536833","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268595","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6522","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088192","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79158,"name":"Cerebral organic aciduria","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GCDH","name":"glutaryl-CoA dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18775954[PMID]","hgnc":"4189","ensembl":"ENSG00000105607","omim":"608801","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":333.0,"area":"Specific population","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Specific population","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"15505392[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.85,"area":"Spain","status":"Validated","source":"22000754[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.48,"area":"Japan","status":"Validated","source":"12127323[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.76,"area":"United States","status":"Validated","source":"6601872[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.56,"area":"Czech Republic","status":"Validated","source":"31241292[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-04","source":"31536184[PMID]_12888985[PMID]","terms":[{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003150","label":"Glutaric aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002339","label":"Abnormal caudate nucleus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031982","label":"Abnormal putamen morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002305","label":"Athetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040194","label":"Increased head circumference","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100954","label":"Open operculum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007132","label":"Pallidal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002275","label":"Poor motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004481","label":"Progressive macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009716","label":"Subependymal nodules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012753","label":"T2 hypointense basal ganglia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100309","label":"Subdural hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null}]}}