{"orpha":79197,"name":"Disorder of branched-chain amino acid metabolism","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-79197/","orphanet_url":"https://www.orpha.net/en/disease/detail/79197","names":{"fr":{"name":"Trouble du métabolisme des acides aminés à chaînes ramifiées"},"de":{"name":"Verzweigte Aminosäuren-Stoffwechselstörung"},"es":{"name":"Enfermedad del metabolismo de los aminoácidos de cadena ramificada"},"it":{"name":"Difetto del metabolismo degli aminoacidi a catena ramificata"},"nl":{"name":"Stoornis van vertakte keten-aminozuurmetabolisme"},"pt":{"name":"Doença do metabolismo de aminoácidos de cadeia ramificada"},"pl":{"name":"Zaburzenie metabolizmu rozgałęzionych łańcuchów aminokwasów"},"cs":{"name":"Poruchy metabolismu větvených aminokyselin"},"uk":{"name":"Порушення обміну амінокислот з розгалуженим ланцюгом"},"zh":{"name":"支链氨基酸代谢异常"},"tr":{"name":"Dallı zincirli amino asit metabolizması bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C50.D","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"5456505"},{"source":"MONDO","code":"0019242","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19242","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342712","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79062,"name":"Disorder of amino acid and other organic acid metabolism","classifications":[150,156]}],"children":[{"orpha":308410,"name":"Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency","type":"Disease"},{"orpha":289307,"name":"Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency","type":"Disease"},{"orpha":401948,"name":"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency","type":"Disease"},{"orpha":511,"name":"Maple syrup urine disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}