{"entities":{"Q86118":{"pageid":76503,"ns":120,"title":"Item:Q86118","lastrevid":469720,"modified":"2026-08-15T11:29:02Z","type":"item","id":"Q86118","labels":{"mul":{"language":"mul","value":"ID_1817788413"},"pt-br":{"language":"pt-br","value":"Acid\u00faria isovalerica"},"en":{"language":"en","value":"Isovaleric aciduria"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A isovalericacidemia \u00e9 causada por uma defici\u00eancia de isovaleril CoA desidrogenase que afeta o metabolismo da leucina. A doen\u00e7a \u00e9 transmitida por heran\u00e7a autoss\u00f4mica recessiva. A preval\u00eancia estimada na popula\u00e7\u00e3o geral da Europa \u00e9 de 1/100 000. Desde os primeiros dias de vida, os rec\u00e9m-nascidos podem apresentar v\u00f3mitos, desidrata\u00e7\u00e3o, coma e movimentos anormais. Os exames biol\u00f3gicos mostram acidose metab\u00f3lica com cetose, hiperamonemia, neutropenia, trombopenia, hipocalcemia. O tratamento baseia-se na restri\u00e7\u00e3o moderada de prote\u00ednas na dieta e na administra\u00e7\u00e3o oral de glicina e carnitina que garantem a depura\u00e7\u00e3o eficaz de isovaleril CoA."},"en":{"language":"en","value":"Isovalericacidaemia is caused by a deficit in isovaleryl CoA dehydrogenase which affects leucine metabolism. The disease is transmitted by autosomal recessive inheritance. The estimated prevalence in the general population of Europe is 1/100 000. As of the first days of life, newborns can present vomiting, dehydration, coma and abnormal movements. Biological examinations show metabolic acidosis with ketosis, hyperammonemia, neutropaenia, thrombopaenia, hypocalcaemia. Treatment is based on a moderate restriction of proteins in the diet and oral administration of glycine and carnitine which assure effective clearance of isovaleryl CoA."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"cffec1713d3011504760ab7cda547ac58767e047","datavalue":{"value":"https://id.who.int/icd/entity/1817788413","type":"string"},"datatype":"url"},"type":"statement","id":"Q86118$11E33243-6C33-4270-ABE7-FD9434245207","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"262585bbfb921cce0af5232c68f44a7b7975a49e","datavalue":{"value":"CID11:ID_1817788413","type":"string"},"datatype":"string"},"type":"statement","id":"Q86118$B028F481-C195-41FE-AC58-935883264356","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"5d26a7f78e700870d9ce2a36bd3ed652e77a7012","datavalue":{"value":"dki-india-ID_1817788413","type":"string"},"datatype":"string"},"type":"statement","id":"Q86118$79A9E581-F5AC-4CB5-87CB-D1992663E100","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q86118$7DBED271-75A0-4F5B-A5AE-0D4FFE6C8230","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":"Q86118$6EFEEE6F-B215-499E-A8A6-5DB9AE61B7B3","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":"Q86118$917351E1-A9F2-42F4-9D22-F89DEA9A3A7E","rank":"normal"}]},"sitelinks":{}}}}