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Ornithine Transcarbamylase Deficiency Unmasked Because of Gastrointestinal Bleeding

Trivedi, M. M.D.; Zafar, S. M.D.; Spalding, M. J. M.D.; Jonnalagadda, S. M.D.

Journal of Clinical Gastroenterology: April 2001 - Volume 32 - Issue 4 - p 340-343
Case Reports

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.

From the Division of Gastroenterology (M.T., S.Z., S.J.), University of Missouri-Columbia; and the Division of Pathology (M.J.S.), University of Missouri-Columbia, Columbia, Missouri, U.S.A.

Submitted September 2, 1999.

Accepted February 22, 2000.

Address correspondence and reprint requests to Dr. Trivedi Madhuri, MA429D, Health Sciences Building, One Hospital Drive, Columbia, MO 65212, U.S.A. E-mail:

© 2001 Lippincott Williams & Wilkins, Inc.