Ornithine transcarbamylase deficiency
Other Names for this Disease
- OCT deficiency
- Ornithine carbamoyltransferase deficiency
- OTC deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
On this page
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides a current, expert-authored, peer-reviewed, full-text article urea cycle disorders in general that you may find helpful. GeneReview articles describe the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The NORD Physician Guide for Ornithine transcarbamylase deficiency was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
- ClinicalTrials.gov lists trials that are studying or have studied Ornithine transcarbamylase deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Study of Treatment and Metabolism in Patients With Urea Cycle Disorders which may be of interest to you. To find this trial, click on the link above.
|Generic Name||Glycerol phenylbutyrate|
(Hyperion Therapeutics, Inc.)
The FDA has approved this product to be used in this manner.
|Use as a nitrogen-binding adjunctive therapy for chronic management of adult and pediatric patients > or = to 2 years of age with urea cycle disorders (UCDs) that cannot be managed by dietary protein restriction and/or amino acid supplementation alone. RAVICTI must be used with dietary protein restriction and, in some cases, dietary supplements (eg, essential amino acids, arginine, citrulline, protein-free calorie supplements).|
|More Information about this product||Drug Information Portal|