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Article: Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.

TitleComplete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.
Authors
Issue Date2007
PublisherSpringer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0141-8955
Citation
Journal Of Inherited Metabolic Disease, 2007, v. 30 n. 6, p. 981 How to Cite?
AbstractOrnithine transcarbamylase deficiency is the commonest urea cycle disorder which is transmitted in X-linked inheritance. It is mainly characterized in males by acute encephalopathy and hyperammonaemia with fatal outcomes in both classical neonatal and late-onset types. We report a 3-year-old 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 micromol/L) and glutamine (747 micromol/L) concentrations were normal. The only biochemical abnormalities detected were marked orotic aciduria (700 micromol/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-to-glutamine substitution on amino acid 277 (p.R277Q) was revealed to be a late-onset mutant. Our case strengthens the argument that in any child with coma or acute encephalopathy of undetermined cause, genetic analysis of the OTC gene and the measurement of urinary uracil concentration remain the most reliable indicators of late-onset OTCD during acute and even quiescent phases. Existing neonatal screening programmes for inheritable metabolic disorders fail to detect late-onset variants. Therefore, a high clinical suspicion is a key to correct and timely diagnosis, especially in those patients with atypical presentations.
Persistent Identifierhttp://hdl.handle.net/10722/80133
ISSN
2015 SCImago Journal Rankings: 1.389
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_HK
dc.contributor.authorSiu, TSen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorChan, GCen_HK
dc.contributor.authorPoon, GWen_HK
dc.contributor.authorWong, KYen_HK
dc.contributor.authorLow, LCen_HK
dc.contributor.authorTang, NLen_HK
dc.contributor.authorLi, SKen_HK
dc.contributor.authorLau, KYen_HK
dc.contributor.authorKwong, NSen_HK
dc.contributor.authorTam, Sen_HK
dc.date.accessioned2010-09-06T08:02:47Z-
dc.date.available2010-09-06T08:02:47Z-
dc.date.issued2007en_HK
dc.identifier.citationJournal Of Inherited Metabolic Disease, 2007, v. 30 n. 6, p. 981en_HK
dc.identifier.issn1573-2665en_HK
dc.identifier.urihttp://hdl.handle.net/10722/80133-
dc.description.abstractOrnithine transcarbamylase deficiency is the commonest urea cycle disorder which is transmitted in X-linked inheritance. It is mainly characterized in males by acute encephalopathy and hyperammonaemia with fatal outcomes in both classical neonatal and late-onset types. We report a 3-year-old 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 micromol/L) and glutamine (747 micromol/L) concentrations were normal. The only biochemical abnormalities detected were marked orotic aciduria (700 micromol/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-to-glutamine substitution on amino acid 277 (p.R277Q) was revealed to be a late-onset mutant. Our case strengthens the argument that in any child with coma or acute encephalopathy of undetermined cause, genetic analysis of the OTC gene and the measurement of urinary uracil concentration remain the most reliable indicators of late-onset OTCD during acute and even quiescent phases. Existing neonatal screening programmes for inheritable metabolic disorders fail to detect late-onset variants. Therefore, a high clinical suspicion is a key to correct and timely diagnosis, especially in those patients with atypical presentations.en_HK
dc.languageengen_HK
dc.publisherSpringer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0141-8955en_HK
dc.relation.ispartofJournal of inherited metabolic diseaseen_HK
dc.titleComplete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0141-8955&volume=30&issue=6&spage=981&epage=&date=2007&atitle=Complete+recovery+from+acute+encephalopathy+of+late-onset+ornithine+transcarbamylase+deficiency+in+a+3-year-old+boyen_HK
dc.identifier.emailChan, GC: gcfchan@hku.hken_HK
dc.identifier.emailLow, LC: lcklow@hkucc.hku.hken_HK
dc.identifier.authorityChan, GC=rp00431en_HK
dc.identifier.authorityLow, LC=rp00337en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/s10545-007-0692-xen_HK
dc.identifier.pmid17922216-
dc.identifier.scopuseid_2-s2.0-38449094452en_HK
dc.identifier.hkuros140534en_HK
dc.identifier.volume30en_HK
dc.identifier.issue6en_HK
dc.identifier.spage981en_HK
dc.identifier.epage981en_HK
dc.identifier.isiWOS:000251426100020-
dc.identifier.scopusauthoridMak, CM=34971727200en_HK
dc.identifier.scopusauthoridSiu, TS=7005304925en_HK
dc.identifier.scopusauthoridLam, CW=7402527629en_HK
dc.identifier.scopusauthoridChan, GC=16160154400en_HK
dc.identifier.scopusauthoridPoon, GW=36874601700en_HK
dc.identifier.scopusauthoridWong, KY=7404758500en_HK
dc.identifier.scopusauthoridLow, LC=7007049461en_HK
dc.identifier.scopusauthoridTang, NL=55357657900en_HK
dc.identifier.scopusauthoridLi, SK=23474205600en_HK
dc.identifier.scopusauthoridLau, KY=55421789800en_HK
dc.identifier.scopusauthoridKwong, NS=12646682000en_HK
dc.identifier.scopusauthoridTam, S=7202037323en_HK

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