{"entities":{"Q40000":{"pageid":30368,"ns":120,"title":"Item:Q40000","lastrevid":125704,"modified":"2026-08-13T05:38:20Z","type":"item","id":"Q40000","labels":{"mul":{"language":"mul","value":"5C50.D0"},"pt-br":{"language":"pt-br","value":"Doen\u00e7a da urina de xarope de Bordo"},"en":{"language":"en","value":"Maple-syrup-urine disease"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A doen\u00e7a da urina do xarope de \u00e1cer (ou bordo) \u00e9 um dist\u00farbio do metabolismo dos amino\u00e1cidos de cadeia ramificada. Quatro formas s\u00e3o descritas. A forma cl\u00e1ssica de in\u00edcio precoce se manifesta ap\u00f3s o nascimento por letargia, m\u00e1 alimenta\u00e7\u00e3o e sinais neurol\u00f3gicos de intoxica\u00e7\u00e3o. O curso cl\u00ednico sem tratamento \u00e9 caracterizado pelo aprofundamento do coma com urina com odor de xarope de bordo . A forma subaguda se manifesta posteriormente com encefalopatia, defici\u00eancia mental, hipotonia importante, opist\u00f3tono e atrofia cerebral com desfecho grave. A forma intermitente pode se manifestar em qualquer idade e se apresenta com coma cetoacid\u00f3tico repetido. A forma responsiva \u00e0 tiamina \u00e9 uma forma muito rara caracterizada pela melhora do perfil bioqu\u00edmico com a terapia com tiamina."},"en":{"language":"en","value":"Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acids metabolism. Four forms are described. The early onset classic form manifests after birth by lethargy, poor feeding and neurological signs of intoxication. Clinical course without treatment is characterised by deepening coma with maple syrup odour of urine. Subacute MSUD manifests later with encephalopathy, mental disability, major hypotonia, opisthotonus and cerebral atrophy with severe outcome. The intermittent form of MSUD may manifest at any age and presents with repeated ketoacidotic coma. Thiamine-responsive MSUD is a very rare form characterised by improvement of the biochemical profile with thiamine therapy."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"25c9e6096ff2f9752a1fe6ddf55827b623e36992","datavalue":{"value":"https://id.who.int/icd/entity/1623706568","type":"string"},"datatype":"url"},"type":"statement","id":"Q40000$234E39AB-816F-4B16-9223-845A7C9E33A5","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"13e5a238a17980881594ef0869ce4f2b55c3531a","datavalue":{"value":"CID11:5C50.D0","type":"string"},"datatype":"string"},"type":"statement","id":"Q40000$A1B6C986-7CAC-42E3-9395-AFC219833186","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"182f3bd4fc7a62fffa924cf2a67d7b4aaca75768","datavalue":{"value":"dki-india-5C50.D0","type":"string"},"datatype":"string"},"type":"statement","id":"Q40000$1ACE57D0-A3C5-43D9-BAE2-7CE288A4EE1D","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q40000$91BE0B7E-8A86-46F8-8A7C-E74974D537D5","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":"Q40000$5F456AFA-E1FE-45A4-8861-DF9553F53A85","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q40000$D55F6F5C-AD70-4FC9-B5C9-7A0C805DCD02","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"6845ea3a3ab6f3c479ee42ef272743d604517cbc","datavalue":{"value":{"entity-type":"item","numeric-id":15561,"id":"Q15561"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q40000$72035464-9225-461D-BAC0-0221F72D5E61","rank":"normal"}]},"sitelinks":{}}}}