{"entities":{"Q104474":{"pageid":94872,"ns":120,"title":"Item:Q104474","lastrevid":602270,"modified":"2026-08-17T10:19:55Z","type":"item","id":"Q104474","labels":{"mul":{"language":"mul","value":"ID_1488785910"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de carnitina palmitoiltransferase II, forma infantil grave"},"en":{"language":"en","value":"Carnitine palmitoyltransferase II deficiency, severe infantile form"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A forma infantil grave de defici\u00eancia de carnitina palmitoiltransferase II, um transtorno heredit\u00e1rio que afeta a oxida\u00e7\u00e3o mitocondrial de \u00e1cidos graxos de cadeia longa \u00e9 a forma de in\u00edcio precoce da doen\u00e7a. A apresenta\u00e7\u00e3o pode ser no per\u00edodo neonatal, mas a maioria dos casos tem in\u00edcio entre 6 e 24 meses. A doen\u00e7a \u00e9 caracterizada por intoler\u00e2ncia ao jejum grave, levando a dist\u00farbios metab\u00f3licos caracterizados por hipoglicemia hipocet\u00f3tica, resultando em coma, convuls\u00f5es e encefalopatia hep\u00e1tica. H\u00e1 miopatia do m\u00fasculo esquel\u00e9tico associada e cardiomiopatia que pode levar a arritmias card\u00edacas parox\u00edsticas fatais."},"en":{"language":"en","value":"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. Presentation can be in the newborn period but most cases have an age of onset between 6 and 24 months. The disease is characterised by a severe fasting intolerance leading to metabolic derangements of hypoketotic hypoglycaemia, resulting in coma and seizures, and hepatic encephalopathy leading to liver failure. There is associated skeletal muscle myopathy and cardiomyopathy which can lead to fatal paroxysmal cardiac arrhythmias."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"54016fd491a9c78abb60b5d32171440a13980af3","datavalue":{"value":"https://id.who.int/icd/entity/1488785910","type":"string"},"datatype":"url"},"type":"statement","id":"Q104474$E0BD6B19-F2CD-45A6-A1C2-83A25A817060","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"eb4b529d48010a1aa1cf8908bf2dacd13378cf59","datavalue":{"value":"CID11:ID_1488785910","type":"string"},"datatype":"string"},"type":"statement","id":"Q104474$6976A0E2-E305-44E4-B97D-EA4F9CDFD7B2","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"f411967e7b0152700e5576c8ec3ae95a0a058448","datavalue":{"value":"dki-india-ID_1488785910","type":"string"},"datatype":"string"},"type":"statement","id":"Q104474$3AE40E6B-422D-44C2-B32C-9884C9B00466","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q104474$E9F65A64-4028-40BC-AC3E-68D6F6ED205C","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":"Q104474$344EC35D-ACB1-477B-B11F-84C79ABEBC37","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q104474$79627E6C-8F1B-4BED-839B-2C422BF2D3CA","rank":"normal"}]},"sitelinks":{}}}}