{"entities":{"Q95528":{"pageid":85921,"ns":120,"title":"Item:Q95528","lastrevid":537558,"modified":"2026-08-16T11:19:48Z","type":"item","id":"Q95528","labels":{"mul":{"language":"mul","value":"ID_373222828"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de fosforila\u00e7\u00e3o oxidativa combinada tipo 5"},"en":{"language":"en","value":"Combined oxidative phosphorylation deficiency type 5"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A defici\u00eancia combinada de fosforila\u00e7\u00e3o oxidativa tipo 5 \u00e9 caracterizada por hipotonia severa, academia l\u00e1ctica e hiperamonemia cong\u00eanita. Foi descrito em tr\u00eas rec\u00e9m-nascidos de pais consangu\u00edneos. O exame de ultrassom durante a 36\u00aa semana de gravidez revelou edema generalizado. A cardiomiopatia hipertr\u00f3fica e a tubulopatia desenvolveram-se na primeira semana de vida e os beb\u00eas morreram no primeiro m\u00eas. As atividades das enzimas da cadeia respirat\u00f3ria mitocondrial foram reduzidas na musculatura dos pacientes. Muta\u00e7\u00f5es foram identificadas no gene MRPS22, que codifica uma prote\u00edna riboss\u00f4mica mitocondrial."},"en":{"language":"en","value":"Combined oxidative phosphorylation deficiency type 5 is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene, encoding a mitochondrial ribosomal protein."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"cdd88f14324723ad6d051360f2de2f91443ae39c","datavalue":{"value":"https://id.who.int/icd/entity/373222828","type":"string"},"datatype":"url"},"type":"statement","id":"Q95528$6A144B83-BA90-4D78-AAF4-4E3AAE7F4D04","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"354aaa6dda4d15a0114a2fc452d605c8de3de29d","datavalue":{"value":"CID11:ID_373222828","type":"string"},"datatype":"string"},"type":"statement","id":"Q95528$693B4B59-42E5-44DD-84A2-7E1B633436FB","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"95e6fe7152454a9d94dfd084822704bca8d8b2b8","datavalue":{"value":"dki-india-ID_373222828","type":"string"},"datatype":"string"},"type":"statement","id":"Q95528$4EE1C80A-A310-49EE-BE58-4372A4F4E5E6","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q95528$4182D2F5-D8A0-480A-A229-2881BB815875","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q95528$B7B14340-3E65-438E-837B-0BDA11A03251","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":"Q95528$C7879162-AE94-42FF-AAF1-76AB4605D699","rank":"normal"}]},"sitelinks":{}}}}