{"entities":{"Q105036":{"pageid":95434,"ns":120,"title":"Item:Q105036","lastrevid":606304,"modified":"2026-08-17T10:56:42Z","type":"item","id":"Q105036","labels":{"mul":{"language":"mul","value":"ID_956925984"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de pterina-4-carbinolamina desidratase"},"en":{"language":"en","value":"Pterin-4-carbinolamine dehydratase deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A defici\u00eancia de desidratase \u00e9 uma das etiologias da hiperfenilalaninemia devido \u00e0 defici\u00eancia de tetraidrobiopte\u00edna. No entanto, a defici\u00eancia de pterina-4 alfa-carbinolamina desidratase \u00e9 uma anormalidade patol\u00f3gica leve, exceto pelo risco de hiperfenilalaninemia induzida. Em alguns casos, os seguintes sinais foram observados: hipotonia, EEG mostrando sinais irritativos e aquisi\u00e7\u00e3o lenta de habilidades psicomotoras. \u00c9 diagnosticado quando o is\u00f4mero 7-biopterina (primapterina) \u00e9 - geralmente fortuitamente - encontrado nos fluidos biol\u00f3gicos de uma crian\u00e7a com hiperfenilalaninemia. O manejo \u00e9 baseado principalmente na ingest\u00e3o diet\u00e9tica e restrita de fenilalanina"},"en":{"language":"en","value":"Dehydratase deficiency is one of the etiologies of hyperphenylalaninemia due to tetrahydrobioptein deficiency. However pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency is a mild pathological abnormality, except for the risk of induced hyperphenylalaninemia. In some cases, the following signs have been noted: hypotonia, EEG showing irritative signs, and slow acquisition of psychomotor skills. It is diagnosed when the 7-biopterin isomer (primapterin) is - usually fortuitously - found in the biological fluids of an infant with hyperphenylalaninemia. Management is mainly based on dietary and restricted phenylalanine intake"}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"788525e0e8a6bb8140c235fe97404a72b623c64f","datavalue":{"value":"https://id.who.int/icd/entity/956925984","type":"string"},"datatype":"url"},"type":"statement","id":"Q105036$3320F468-447C-4603-89A9-FC94B942AB39","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"daeba9ea582515722ba96d39a6dbbcf217b1866a","datavalue":{"value":"CID11:ID_956925984","type":"string"},"datatype":"string"},"type":"statement","id":"Q105036$A6F6B565-25CB-42D2-A7AB-1AAA5ECFA4D8","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"e4dba89e1532425e6902bfc8e23633c94034df75","datavalue":{"value":"dki-india-ID_956925984","type":"string"},"datatype":"string"},"type":"statement","id":"Q105036$8CBDC004-571E-4AB2-8712-7750109A6DB9","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q105036$1C76ED12-A6C8-41AB-BFE4-3B86452ACA3F","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":"Q105036$5C5D3478-DBFE-4A43-A5BD-4FB641AB295D","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":"Q105036$9884C51E-8A22-48CD-A680-4D5499240590","rank":"normal"}]},"sitelinks":{}}}}