{"orpha":401854,"name":"Lipoic acid biosynthesis defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Lipoate biosynthesis defect"],"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-401854/","orphanet_url":"https://www.orpha.net/en/disease/detail/401854","names":{"fr":{"name":"Défaut de biosynthèse de l'acide lipoïque","synonyms":["Défaut de biosynthèse du lipoate"]},"de":{"name":"Liponsäure-Biosynthese-Defekt"},"es":{"name":"Defecto de la biosíntesis de ácido lipoico","synonyms":["Defecto de la biosíntesis de lipoato"]},"it":{"name":"Difetto della biosintesi dell'acido lipoico","synonyms":["Difetto della biosintesi del lipoato"]},"nl":{"name":"Defect van liponzuurbiosynthese","synonyms":["Defect van lipoaatbiosynthese"]},"pt":{"name":"Defeito de biossíntese de ácido lipóico"},"pl":{"name":"Defekt biosyntezy kwasu liponowego","synonyms":["Defekt biosyntezy liponianu"]},"cs":{"name":"Poruchy biosyntézy kyseliny lipoové","synonyms":["Porucha biosyntézy lipoátu"]},"uk":{"name":"Дефект біосинтезу ліпоєвої кислоти","synonyms":["Дефект біосинтезу ліпоатів"]},"zh":{"name":"硫辛酸生物合成缺陷","synonyms":["磷脂生物合成缺陷"]},"tr":{"name":"Lipoik asit biyosentez defekti","synonyms":["Lipoat biyosentez defekti"]}},"xrefs":[{"source":"MONDO","code":"0018424","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18424","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12679","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68380,"name":"Mitochondrial disease","classifications":[150,156]}],"children":[{"orpha":401866,"name":"Childhood-onset spasticity with hyperglycinemia","type":"Disease"},{"orpha":401859,"name":"Lipoic acid synthetase deficiency","type":"Disease"},{"orpha":401862,"name":"Lipoyl transferase 1 deficiency","type":"Disease"},{"orpha":447795,"name":"Lipoyl transferase 2 deficiency","type":"Biological anomaly"},{"orpha":508093,"name":"MEPAN syndrome","type":"Malformation syndrome"},{"orpha":289573,"name":"Multiple mitochondrial dysfunctions syndrome","type":"Clinical group"},{"orpha":2394,"name":"Pyruvate dehydrogenase E3 deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Neonatal"],"prevalence":[],"phenotypes":null}