{"orpha":67046,"name":"3-methylglutaconic aciduria type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["3-methylglutaconyl-CoA hydratase deficiency","3MG-CoA hydratase deficiency","MGA1"],"definition":"3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-67046/","orphanet_url":"https://www.orpha.net/en/disease/detail/67046","names":{"fr":{"name":"Acidurie 3-méthylglutaconique type 1","synonyms":["AMG type I","Déficit en 3-méthylglutaconyl-CoA hydratase","Déficit en 3MG-CoA hydratase"],"definition":"L'acidurie 3-méthylglutaconique (3-AMG) de type 1 est une anomalie du métabolisme de la leucine caractérisée par un phénotype variable allant d'un léger retard de langage à un retard psychomoteur, un coma, un retard staturo-pondéral, une acidose métabolique et une dystonie."},"de":{"name":"3-Methylglutaconazidurie Typ 1","synonyms":["3-Methylglutaconyl-CoA-Hydratase-Mangel","3-Methylglutakon-Azidurie","3MG-CoA-Hydratase-Mangel","MGA Typ I","MGA1"],"definition":"Die 3-Methylglutacon-Azidurie (3-MGA) Typ I ist ein angeborener Enzymdefekt im Stoffwechsel des Leuzins. Der klinische Phänotyp ist unterschiedlich und reicht von leicht verzögerter Sprachentwicklung bis zu psychomotorischer Retardierung, Koma, Gedeihstörung, metabolischer Azidose und Dystonie."},"es":{"name":"Aciduria 3-metilglutacónica tipo 1","synonyms":["Deficiencia de 3-metilglutaconil-CoA hidratasa","Deficiencia de 3MG-CoA hidratasa","MGA1"],"definition":"La aciduria 3-metilglutacónica (3-MGA) de tipo I es un error innato en el metabolismo de la leucina, con un fenotipo clínico variable que va desde un leve retraso en el habla a un retraso psicomotor, coma, retraso del crecimiento, acidosis metabólica y distonía."},"it":{"name":"Aciduria 3-metilglutaconica, tipo 1","synonyms":["Deficit di 3-metilglutaconil-CoA idratasi","Deficit di 3MG-CoA idratasi","MGA1"]},"nl":{"name":"3-methylglutaconacidurie type 1","synonyms":["Deficiëntie van 3-methylglutaconyl-CoA-hydratase","Deficiëntie van 3MG-CoA-hydratase","MGA1"],"definition":"Een aangeboren defect van metabolisme van leucine, gekenmerkt door een variabel klinisch fenotype gaande van milde spraakachterstand tot psychomotorische achterstand, coma, niet-gedijen, metabole acidose, en dystonie."},"pt":{"name":"Acidúria 3-metilglutacónica tipo 1","synonyms":["Deficiência de 3-@metilglutaconil-coA hidratase","Deficiência de 3MG-coA hidratase","MGA tipo 1"]},"pl":{"name":"Kwasica 3-metyloglutakonowa typu 1","synonyms":["MGA typu 1","Niedobór hydratazy 3-metyloglutakonylo-CoA","Niedobór hydratazy 3MG-CoA"]},"cs":{"name":"3-methylglutakonová acidurie, typ 1","synonyms":["Deficit 3-methylglutakonyl-CoA hydratázy","Deficit 3MG-CoA hydratázy","MGA1"]},"uk":{"name":"3-метилглутаконова ацидурія, тип 1","synonyms":["Дефіцит 3-метилглутаконіл-КоА-гідратази","Дефіцит 3МГ-КоА-гідратази","MGA1"],"definition":"3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia."},"zh":{"name":"3-甲基戊二酸尿症1型","synonyms":["3-甲基戊烯二酰-CoA水合酶缺乏症"]},"tr":{"name":"3-metilglutakonik asidüri tip 1","synonyms":["MGA1","3MG-CoA hidrataz eksikliği","3-metilglutakonil-CoA hidrataz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"250950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"899935975"},{"source":"MONDO","code":"0009610","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562801","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342727","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10321","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":289902,"name":"3-methylglutaconic aciduria","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AUH","name":"AU RNA binding methylglutaconyl-CoA hydratase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12434311[PMID]_12655555[PMID]","hgnc":"890","ensembl":"ENSG00000148090","omim":"600529","loci":["9q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20855850[PMID]","terms":[{"hpo":"HP:0003535","label":"3-Methylglutaconic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null}]}}