{"entities":{"Q89151":{"pageid":79536,"ns":120,"title":"Item:Q89151","lastrevid":491793,"modified":"2026-08-15T15:42:58Z","type":"item","id":"Q89151","labels":{"mul":{"language":"mul","value":"ID_215404985"},"pt-br":{"language":"pt-br","value":"Retardo psicomotor e miopatia devidos \u00e0 defici\u00eancia de S-adenosil-homociste\u00edna hidrolase"},"en":{"language":"en","value":"Psychomotor retardation and myopathy due to S-adenosylhomocysteine hydrolase deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta s\u00edndrome \u00e9 caracterizada por atraso psicomotor e miopatia grave (hipotonia, aus\u00eancia de reflexos tendinosos e mieliniza\u00e7\u00e3o tardia) desde o nascimento, associada a hipermetioninemia e n\u00edveis s\u00e9ricos elevados de creatina quinase. Foi descrito em tr\u00eas pacientes n\u00e3o relacionados. A transmiss\u00e3o parece ser autoss\u00f4mica recessiva. Duas muta\u00e7\u00f5es causais foram identificadas no gene que codifica a S-adenosil-homociste\u00edna hidrolase (SAHH; AHCY), uma enzima envolvida no metabolismo da metionina. Uma dieta restrita em metionina, junto com suplementos de creatina, pode melhorar parcialmente a mieliniza\u00e7\u00e3o retardada e o desenvolvimento psicomotor."},"en":{"language":"en","value":"This syndrome is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels. It has been described in three unrelated patients. Transmission appears to be autosomal recessive. Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY), an enzyme involved in methionine metabolism. A methionine-restricted diet, together with creatine supplements, may partly improve the delayed myelination and psychomotor development."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"39f77991f7048c0611e1a89420f27512ff987327","datavalue":{"value":"https://id.who.int/icd/entity/215404985","type":"string"},"datatype":"url"},"type":"statement","id":"Q89151$9F1E818D-008B-4F54-A7C6-C1086DA27641","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"0f5faa6d475b2d8931ac63f6363a57c3fc0c3e3f","datavalue":{"value":"CID11:ID_215404985","type":"string"},"datatype":"string"},"type":"statement","id":"Q89151$363354C6-7DAA-4983-ABB2-B87B7FBC60AC","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"fd3f78a4886777e0d03220f7fe88c9b19699ec52","datavalue":{"value":"dki-india-ID_215404985","type":"string"},"datatype":"string"},"type":"statement","id":"Q89151$30FCA97D-FEED-4CC0-B427-85BE919657A9","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q89151$DF88F6D7-04D9-4436-BCC8-4764AA6D2EF3","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":"Q89151$D8A02119-D9DC-464A-8724-D831E43AD31F","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q89151$F5680703-9CFB-411B-BD48-DA7654310D64","rank":"normal"}]},"sitelinks":{}}}}