Ornithine Transcarbamylase Deficiency
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
NORD is very grateful to Mendel Tuchman, MD, Chief Research Officer, Scientific Director, Children's Research Institute, Professor of Pediatrics, Biochemistry, Molecular Biology & Integrative System Biology, Children's National Medical Center, and Nicholas Ah Mew, MD, Biochemical Genetics Fellow, Children's National Medical Center, for assistance in the preparation of this report.
Synonyms of Ornithine Transcarbamylase Deficiency
- hyperammonemia due to ornithine transcarbamylase deficiency
- ornithine carbamyltransferase deficiency
- OTC deficiency
- No subdivisions found.
Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with OTC deficiency. Symptoms include vomiting, refusal to eat, progressive lethargy, and coma.
Organizations related to Ornithine Transcarbamylase Deficiency
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1986, 1987, 1990, 1992, 1993, 1996, 2001, 2011
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.