{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T06:56:26Z","timestamp":1761807386672},"reference-count":0,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,10,5]],"date-time":"2007-10-05T00:00:00Z","timestamp":1191542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Ornithine transcarbamylase deficiency is the commonest urea cycle disorder which is transmitted in X\u2010linked inheritance. It is mainly characterized in males by acute encephalopathy and hyperammonaemia with fatal outcomes in both classical neonatal and late\u2010onset types. We report a 3\u2010year\u2010old healthy Hong Kong Chinese boy who presented with acute encephalopathy and coma after three days of gastroenteritis. He had no focal neurological deficit and brain CT imaging was normal. His plasma ammonia (54 \u03bcmol\/L) and glutamine (747 \u03bcmol\/L) concentrations were normal. The only biochemical abnormalities detected were marked orotic aciduria (700 \u03bcmol\/mmol creatinine) and elevated urinary uracil. He regained consciousness spontaneously after three days under intensive care with parenteral fluid therapy. He recovered completely without any neurological deficits. Five months after discharge, urinary uracil concentration remained elevated despite normalized orotic acid concentration. Finally, ornithine transcarbamylase deficiency was diagnosed by DNA analysis. A missense mutation of arginine\u2010to\u2010glutamine substitution on amino acid 277 (p.R277Q) was revealed to be a late\u2010onset mutant. Our case strengthens the argument that in any child with coma or acute encephalopathy of undetermined cause, genetic analysis of the <jats:italic>OTC<\/jats:italic> gene and the measurement of urinary uracil concentration remain the most reliable indicators of late\u2010onset OTCD during acute and even quiescent phases. Existing neonatal screening programmes for inheritable metabolic disorders fail to detect late\u2010onset variants. Therefore, a high clinical suspicion is a key to correct and timely diagnosis, especially in those patients with atypical presentations.<\/jats:p>","DOI":"10.1007\/s10545-007-0692-x","type":"journal-article","created":{"date-parts":[[2007,10,5]],"date-time":"2007-10-05T05:21:45Z","timestamp":1191561705000},"page":"981-981","source":"Crossref","is-referenced-by-count":9,"title":["Complete recovery from acute encephalopathy of late\u2010onset ornithine transcarbamylase deficiency in a 3\u2010year\u2010old boy"],"prefix":"10.1002","volume":"30","author":[{"given":"C. M.","family":"Mak","sequence":"first","affiliation":[{"name":"Division of Clinical Biochemistry Queen Mary Hospital Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.\u2010S.","family":"Siu","sequence":"additional","affiliation":[{"name":"Division of Clinical Biochemistry Queen Mary Hospital Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.\u2010W.","family":"Lam","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology The Chinese University of Hong Kong, Prince of Wales Hospital Shatin Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. C.\u2010F.","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine The University of Hong Kong, Queen Mary Hospital Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. W.\u2010K.","family":"Poon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine The University of Hong Kong, Queen Mary Hospital Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.\u2010Y.","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine The University of Hong Kong, Queen Mary Hospital Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. C.\u2010K.","family":"Low","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine The University of Hong Kong, Queen Mary Hospital Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. L.","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology The Chinese University of Hong Kong, Prince of Wales Hospital Shatin Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. K.","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tuen Mun Hospital Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.\u2010Y.","family":"Lau","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tuen Mun Hospital Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.\u2010S.","family":"Kwong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tuen Mun Hospital Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Tam","sequence":"additional","affiliation":[{"name":"Division of Clinical Biochemistry Queen Mary Hospital Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,10,5]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0692-x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0692-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:43:37Z","timestamp":1694753017000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0692-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,5]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["10.1007\/s10545-007-0692-x"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0692-x","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,5]]}}}