{"entities":{"Q105033":{"pageid":95431,"ns":120,"title":"Item:Q105033","lastrevid":606281,"modified":"2026-08-17T10:56:30Z","type":"item","id":"Q105033","labels":{"mul":{"language":"mul","value":"ID_1931239861"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de dihidropteridina redutase"},"en":{"language":"en","value":"Dihydropteridine reductase deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A defici\u00eancia da diidropteridina redutase, um dist\u00farbio gen\u00e9tico autoss\u00f4mico recessivo, \u00e9 uma das causas da hiperfenilalaninemia maligna devido \u00e0 defici\u00eancia de tetra-hidrobiopterina e tamb\u00e9m \u00e9 respons\u00e1vel pela neurotransmiss\u00e3o defeituosa de monoaminas. Quando n\u00e3o tratada, sua defici\u00eancia leva a sinais neurol\u00f3gicos que incluem: retardo psicomotor, dist\u00farbios de tonicidade, sonol\u00eancia, irritabilidade, movimentos anormais, hipertermia, hipersaliva\u00e7\u00e3o e dificuldade de engolir."},"en":{"language":"en","value":"Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterine deficiency, and is also responsible for defective neurotransmission of monoamines. When left untreated, DHPR deficiency leads to neurological signs that include: psychomotor retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficult swallowing."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"49b712e6d815908efd8cb6ade5c99f6f5031c7c4","datavalue":{"value":"https://id.who.int/icd/entity/1931239861","type":"string"},"datatype":"url"},"type":"statement","id":"Q105033$95D41B16-9676-4640-B652-03362D8B12DB","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"37ac2d2ea84d586da795c6c79088143cda492e0b","datavalue":{"value":"CID11:ID_1931239861","type":"string"},"datatype":"string"},"type":"statement","id":"Q105033$2114FCC7-39E6-45FA-AECA-4AFC6E83FDAF","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"5ccf6bf8ed02dc25d09d44a3fe14724905ad0ab8","datavalue":{"value":"dki-india-ID_1931239861","type":"string"},"datatype":"string"},"type":"statement","id":"Q105033$292CAC62-8950-4825-8605-D3389B1D2C08","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q105033$14BDC073-93C0-44DE-B05E-E59E5D756B81","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":"Q105033$5426603C-ABA1-4887-BD38-353B9FAF60C0","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":"Q105033$07D5D11B-0CBB-4415-81A9-C564E20025D8","rank":"normal"}]},"sitelinks":{}}}}