{"entities":{"Q83936":{"pageid":74321,"ns":120,"title":"Item:Q83936","lastrevid":453851,"modified":"2026-08-15T09:18:15Z","type":"item","id":"Q83936","labels":{"mul":{"language":"mul","value":"ID_664824338"},"pt-br":{"language":"pt-br","value":"Acid\u00faria formiminoglut\u00e2mica"},"en":{"language":"en","value":"Formiminoglutamic aciduria"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A acid\u00faria formiminoglut\u00e2mica, em sua forma moderada e na aus\u00eancia de administra\u00e7\u00e3o de histidina, \u00e9 caracterizada por leve atraso no desenvolvimento e concentra\u00e7\u00f5es elevadas de formiminoglutamato (FIGLU) na urina. Um fen\u00f3tipo mais grave foi descrito em cinco membros de uma fam\u00edlia japonesa e incluiu d\u00e9ficit intelectual grave, retardo psicomotor e anemia megalobl\u00e1stica. A acid\u00faria formiminoglut\u00e2mica \u00e9 uma doen\u00e7a autoss\u00f4mica recessiva causada por uma defici\u00eancia de glutamato formiminotransferase -ciclodeaminase (FTCD), uma enzima envolvida no metabolismo do \u00e1cido f\u00f3lico."},"en":{"language":"en","value":"Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterised by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anaemia. Formiminoglutamic aciduria is an autosomal recessive disease caused by a deficiency of glutamate formiminotransferase-cyclodeaminase (FTCD), an enzyme involved folic acid metabolism."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"cfcb941c0c9e7675b08dd24064dfa40d22b24d32","datavalue":{"value":"https://id.who.int/icd/entity/664824338","type":"string"},"datatype":"url"},"type":"statement","id":"Q83936$7B8D4E41-71A8-4F4A-BF4E-FE2ABD624D52","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"646b252664fa36b6ff3a03d248bfebf81f1d6ba9","datavalue":{"value":"CID11:ID_664824338","type":"string"},"datatype":"string"},"type":"statement","id":"Q83936$98204955-DA7D-4207-9824-4CB474ED7B6A","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"ad2524fbd3d02d15becabdc5315e077aa5b9a052","datavalue":{"value":"dki-india-ID_664824338","type":"string"},"datatype":"string"},"type":"statement","id":"Q83936$2282926A-D55A-46B3-A073-F07376368183","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q83936$C3780C63-01F1-476D-A707-50C555084858","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":"Q83936$3A76CA5C-8AE7-4C00-AA36-6FCF459552A1","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":"Q83936$91197C0B-76A4-42C3-AB5A-C1F61C81DD41","rank":"normal"}]},"sitelinks":{}}}}