{"entities":{"Q40106":{"pageid":30474,"ns":120,"title":"Item:Q40106","lastrevid":126659,"modified":"2026-08-13T05:47:13Z","type":"item","id":"Q40106","labels":{"mul":{"language":"mul","value":"5C55.01"},"pt-br":{"language":"pt-br","value":"S\u00edndrome de Lesch-Nyhan"},"en":{"language":"en","value":"Lesch-Nyhan syndrome"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A s\u00edndrome de Lesch-Nyhan (LNS) \u00e9 a forma mais grave de defici\u00eancia de hipoxantina-guanina fosforibosiltransferase (HPRT), um dist\u00farbio heredit\u00e1rio do metabolismo das purinas e est\u00e1 associada a um aumento da produ\u00e7\u00e3o de \u00e1cido \u00farico (SAU), problemas neurol\u00f3gicos e problemas comportamentais. Os pacientes s\u00e3o normais ao nascer. O atraso psicomotor torna-se evidente dentro de 3 a 6 meses, com atraso no apoio da cabe\u00e7a e na posi\u00e7\u00e3o sentada, hipotonia e atetose (movimentos involunt\u00e1rios, lentos, cont\u00ednuos e contorcidos.). Deposi\u00e7\u00e3o de urina arenosa nas fraldas ou cristal\u00faria com obstru\u00e7\u00e3o do trato urin\u00e1rio s\u00e3o formas comuns de apresenta\u00e7\u00e3o. Os pacientes geralmente apresentam defici\u00eancia intelectual leve a moderada. Suspeita-se da doen\u00e7a quando ocorre atraso psicomotor em um paciente com AU elevada no sangue e na urina. A atividade indetect\u00e1vel da enzima HPRT no sangue perif\u00e9rico ou em c\u00e9lulas intactas (eritr\u00f3citos, fibroblastos) e os testes de gen\u00e9tica molecular confirmam o diagn\u00f3stico. A heran\u00e7a \u00e9 recessiva ligada ao X."},"en":{"language":"en","value":"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioural problems. Patients are normal at birth. Psychomotor delay becomes evident within 3 to 6 months with a delay in head support and sitting, hypotonia and athetoid movements. Sandy urine in diapers or crystalluria with urinary tract obstruction are common forms of presentation. Patients usually show mild to moderate intellectual deficit. Diagnosis is suspected when psychomotor delay occurs in a patient with elevated UA in blood and urine. Undetectable HPRT enzyme activity in peripheral blood or in intact cells (erythrocyte, fibroblast) and molecular genetic testing confirm the diagnosis. Inheritance is X-linked recessive."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"5230587a24712bd02a31279ea336a1b44e4d9844","datavalue":{"value":"https://id.who.int/icd/entity/1886495906","type":"string"},"datatype":"url"},"type":"statement","id":"Q40106$6565C292-B8DB-4BA8-A02E-57BD92837854","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"3b72799321362a2b1871a893ff21d389b015bdf5","datavalue":{"value":"CID11:5C55.01","type":"string"},"datatype":"string"},"type":"statement","id":"Q40106$E09E7731-C63D-4EDD-9285-0C388F455B9C","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"34be781a2e241b4d34b0881d2c2bda76be8508a3","datavalue":{"value":"dki-india-5C55.01","type":"string"},"datatype":"string"},"type":"statement","id":"Q40106$B5F0FB5B-A807-4D8F-BA24-FD562688DFE3","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q40106$16DF329E-3E45-404B-A227-43AED20389F5","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q40106$E2CFEB6B-0E8B-420C-9275-6817550EB0C6","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":"Q40106$1173FB79-A596-4854-914D-42464CF3193C","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"bc8f1bb7a1ed3699b0a64300f89f4facfb5b87b8","datavalue":{"value":{"entity-type":"item","numeric-id":15677,"id":"Q15677"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q40106$163DCEE3-AF3A-4CE6-B0FB-AC3777A0DF28","rank":"normal"}]},"sitelinks":{}}}}