Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding.
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.
Trivedi
M
M
Division of Gastroenterology, University of Missouri-Columbia, Columbia, Missouri, USA. intmdht@showme.missouri.edu
Zafar
S
S
Spalding
M J
MJ
Jonnalagadda
S
S
D000328:Adult; D000641:Ammonia / Q000097:blood*; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000150:complications*; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000473:pathology*; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000641:Ammonia