{"orpha":394529,"name":"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Glutaric aciduria type 2, severe neonatal type","MAD deficiency, severe neonatal type","MADD, severe neonatal type"],"definition":null,"note":"This disease is described under Multiple acyl-CoA dehydrogenase deficiency","url":"https://raremap.alftech.space/d/ORPHA-394529/","orphanet_url":"https://www.orpha.net/en/disease/detail/394529","names":{"fr":{"name":"Déficit multiple en acyl-CoA déshydrogénase, type sévère néonatal","synonyms":["Acidémie glutarique type 2, type sévère néonatal","Déficit en MAD, type sévère néonatal"]},"de":{"name":"Multipler Acyl-CoA-Dehydrogenase-Mangel, schwerer neonataler Typ","synonyms":["Glutarazidurie Typ 2, schwerer neonataler Typ","MAD-Mangel, schwerer neonataler Typ","MADD, schwerer neonataler Typ"]},"es":{"name":"Deficiencia múltiple de acil-CoA deshidrogenasa tipo neonatal grave","synonyms":["Aciduria glutárica tipo 2, tipo neonatal grave","Deficiencia de MAD tipo neonatal grave","MADD tipo neonatal grave"]},"it":{"name":"Deficit multiplo di acil-CoA deidrogenasi, tipo neonatale grave"},"nl":{"name":"Meervoudige acyl-CoA-dehydrogenatiedeficiëntie, ernstig neonataal type","synonyms":["Glutaaracidurie type 2, ernstig neonataal type","MAD-deficiëntie, ernstig neonataal type","MADD, ernstig neonataal type"]},"pt":{"name":"Deficiência de acil-CoA desidrogenase múltipla, tipo neonatal grave"},"pl":{"name":"Złożony niedobór dehydrogenazy acetylo-CoA, typ ciężki noworodkowy","synonyms":["MADD, typ ciężki noworodkowy","Niedobór MAD, typ ciężki noworodkowy","Acyduria glutarowa typu 2, typ ciężki noworodkowy"]},"cs":{"name":"Deficit dehydrogenace mnohočetných acyl-CoA, těžký neonatální typ","synonyms":["Glutaric aciduria type 2, severe neonatal type","MAD deficiency, severe neonatal type","MADD, severe neonatal type"]},"uk":{"name":"Множинний дефіцит ацил-КоА-дегідрогенази, тяжкий неонатальний тип","synonyms":["Глутарова ацидурія 2 типу, важкий неонатальний тип","Дефіцит MAD, важкий неонатальний тип","MADD, важкий неонатальний тип"]},"zh":{"name":"重度新生儿型多重酰基辅酶A脱氢酶缺乏症","synonyms":["重度新生儿型戊二酸尿症2型"]},"tr":{"name":"Çoklu açil-KoA dehidrojenaz eksikliği, ağır yenidoğan tip","synonyms":["MADD, ağır yenidoğan tip","MAD eksikliği, ağır yenidoğan tip","Glutarik asidüri tip 2, ağır yenidoğan tip"]}},"xrefs":[{"source":"OMIM","code":"231680","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"255100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680029","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":26791,"name":"Multiple acyl-CoA dehydrogenase deficiency","classifications":[146,150,156,181,233]}],"children":[],"genes":[{"symbol":"FLAD1","name":"flavin adenine dinucleotide synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27259049[PMID]","hgnc":"24671","ensembl":"ENSG00000160688","omim":"610595","loci":["1q21.3"]},{"symbol":"ETFA","name":"electron transfer flavoprotein subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3481","ensembl":"ENSG00000140374","omim":"608053","loci":["15q24.2-q24.3"]},{"symbol":"ETFB","name":"electron transfer flavoprotein subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3482","ensembl":"ENSG00000105379","omim":"130410","loci":["19q13.41"]},{"symbol":"ETFDH","name":"electron transfer flavoprotein dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3483","ensembl":"ENSG00000171503","omim":"231675","loci":["4q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}