Abstract:
:Ornithine transcarbamylase (OTC) is a mitochondrial-matrix enzyme that catalyzes conversion of ornithine and carbamyl phosphate to citrulline, the second step in the urea cycle. The urea cycle is the most important pathway to detoxification of ammonia in human beings. Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder, inherited as an X-linked disorder that can cause fatal hyperammonemia in male newborns. Women with OTCD have a variable expression of their disease, the variability being determined by lyonization (random inactivation) of the X chromosome. We report a case of a 28-year-old woman who presented with hyperammonemic encephalopathy that was precipitated by a gastrointestinal bleed unmasking OTCD.
journal_name
J Clin Gastroenteroljournal_title
Journal of clinical gastroenterologyauthors
Trivedi M,Zafar S,Spalding MJ,Jonnalagadda Sdoi
10.1097/00004836-200104000-00013subject
Has Abstractpub_date
2001-04-01 00:00:00pages
340-3issue
4eissn
0192-0790issn
1539-2031journal_volume
32pub_type
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journal_title:Journal of clinical gastroenterology
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journal_title:Journal of clinical gastroenterology
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更新日期:2006-07-01 00:00:00
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journal_title:Journal of clinical gastroenterology
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doi:10.1097/00004836-199700001-00013
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