{"entities":{"Q97697":{"pageid":88090,"ns":120,"title":"Item:Q97697","lastrevid":553190,"modified":"2026-08-16T13:49:07Z","type":"item","id":"Q97697","labels":{"mul":{"language":"mul","value":"ID_572875152"},"pt-br":{"language":"pt-br","value":"Acid\u00faria meval\u00f4nica"},"en":{"language":"en","value":"Mevalonic aciduria"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A acid\u00faria meval\u00f4nica e a s\u00edndrome de hiperimunoglobulinemia D representam aos dois extremos de um espectro cl\u00ednico da doen\u00e7a causada pela defici\u00eancia de mevalonato quinase, a primeira enzima comprometida na bioss\u00edntese do colesterol. A acid\u00faria meval\u00f4nica \u00e9 caracterizada por retardo psicomotor, defici\u00eancia de crescimento, ataxia cerebelar progressiva, caracter\u00edsticas dism\u00f3rficas, defici\u00eancia visual progressiva e crises febris recorrentes com hepatoesplenomegalia, linfadenopatia, sintomas abdominais, artralgia e erup\u00e7\u00f5es cut\u00e2neas. Na hiperimunoglobulinemia D, apenas os ataques febris est\u00e3o presentes, mas um subgrupo de pacientes tamb\u00e9m pode desenvolver anormalidades neurol\u00f3gicas de v\u00e1rios graus, como atraso intelectual, ataxia, sintomas oculares e epilepsia."},"en":{"language":"en","value":"Mevalonic aciduria (MVA) and hyperimmunoglobulinaemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. MVA is characterised by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic features, progressive visual impairment and recurrent febrile crises with hepatosplenomegaly, lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. In HIDS, only febrile attacks are present, but a subgroup of patients may also develop neurological abnormalities of varying degree such as intellectual deficit, ataxia, ocular symptoms and epilepsy."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"3ef9913036877e034af2d6d7159d3610a0047c30","datavalue":{"value":"https://id.who.int/icd/entity/572875152","type":"string"},"datatype":"url"},"type":"statement","id":"Q97697$620245A4-007F-41EA-8884-410EE289FD7D","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"b39d1672773707c5184a54d540b9dd79bd1e3def","datavalue":{"value":"CID11:ID_572875152","type":"string"},"datatype":"string"},"type":"statement","id":"Q97697$C40B5F93-7C91-487D-A79A-E8ED798E6FAD","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"fff5cd08a9af4f6094c333a2484b0767fd7ff2dc","datavalue":{"value":"dki-india-ID_572875152","type":"string"},"datatype":"string"},"type":"statement","id":"Q97697$91BF5CBF-40D4-47F4-9F1F-2F6D45F6E416","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q97697$EE3E1FB9-DFE7-4C11-9352-239DBF2E0369","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":"Q97697$4E69D3C8-F633-4BFE-9D75-935F9446A026","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q97697$F3D8D575-5879-4E3C-8F97-A72FD250D8A9","rank":"normal"}]},"sitelinks":{}}}}