{"orpha":254746,"name":"Pyruvate metabolism disorder","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-254746/","orphanet_url":"https://www.orpha.net/en/disease/detail/254746","names":{"fr":{"name":"Anomalie du métabolisme du pyruvate"},"de":{"name":"Pyruvat-Stoffwechselstörung"},"es":{"name":"Trastorno del metabolismo del piruvato"},"it":{"name":"Difetto del metabolismo del piruvato"},"nl":{"name":"Stoornis van pyruvaatmetabolisme"},"pt":{"name":"Doença do metabolismo do piruvato"},"pl":{"name":"Zaburzenia metabolizmu pirogronianu"},"cs":{"name":"Porucha metabolismu pyruvátu"},"uk":{"name":"Порушення обміну пірувату"},"zh":{"name":"丙酮酸代谢紊乱"},"tr":{"name":"Piruvat metabolizması bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0016789","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16789","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268192","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79200,"name":"Disorder of energy metabolism","classifications":[150,156]}],"children":[{"orpha":766,"name":"Hemolytic anemia due to red cell pyruvate kinase deficiency","type":"Disease"},{"orpha":447784,"name":"Mitochondrial pyruvate carrier deficiency","type":"Disease"},{"orpha":765,"name":"Pyruvate dehydrogenase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}