{"entities":{"Q86134":{"pageid":76519,"ns":120,"title":"Item:Q86134","lastrevid":469839,"modified":"2026-08-15T11:29:58Z","type":"item","id":"Q86134","labels":{"mul":{"language":"mul","value":"ID_1304417099"},"pt-br":{"language":"pt-br","value":"Acid\u00faria isobut\u00edrica"},"en":{"language":"en","value":"Isobutyric aciduria"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A defici\u00eancia de isobutiril-CoA desidrogenase \u00e9 um erro inato do metabolismo da valina. A preval\u00eancia \u00e9 desconhecida. Apenas um paciente sintom\u00e1tico (com anemia, defici\u00eancia de crescimento, cardiomiopatia dilatada e defici\u00eancia de carnitina plasm\u00e1tica) foi descrito at\u00e9 agora, mas v\u00e1rias s\u00e9ries de pacientes foram identificadas por meio de programas de triagem neonatal contando com a detec\u00e7\u00e3o de n\u00edveis aumentados de C(4) carnitina por espectrometria de massa em tandem. O dist\u00farbio \u00e9 causado por muta\u00e7\u00f5es no gene ACAD8 (11q25)."},"en":{"language":"en","value":"Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25)."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"527ec4d71b4cfe401409311cc5ea1b61f6c8d0f7","datavalue":{"value":"https://id.who.int/icd/entity/1304417099","type":"string"},"datatype":"url"},"type":"statement","id":"Q86134$75791EAC-87C7-445C-ABFA-2B4AA5AEE3C6","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"eed208f6784795f1fe796fd0833e94e2c271cbc3","datavalue":{"value":"CID11:ID_1304417099","type":"string"},"datatype":"string"},"type":"statement","id":"Q86134$06C099F1-8551-47EE-8D5F-9CA7405B0942","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"0387a2b341a1f3c5d1da153758b26a5e046d1f9f","datavalue":{"value":"dki-india-ID_1304417099","type":"string"},"datatype":"string"},"type":"statement","id":"Q86134$12186D67-2517-49C2-86E9-EDC956043230","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q86134$7F2E1F39-20A7-4928-B4F6-0264FEFB2F1E","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q86134$CA4E61FC-471E-4116-812D-EB1EE6EA3E26","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q86134$429E17E7-26CA-455F-AD44-DD9A528300D1","rank":"normal"}]},"sitelinks":{}}}}