Adult-onset citrullinemia type II
Other Names for this Disease
- Adult-onset citrullinemia type 2
- Citrin deficiency
- Citrullinemia type 2
- Citrullinemia type II
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Liver transplantation for adult-onset citrullinemia type II prevents hyperammonemic crises, corrects metabolic disturbances, and eliminates preferences for protein-rich foods. Administration of arginine decreases blood ammonia concentration. Reduction in calorie and/or carbohydrate intake can lessen high triglycerides. Individuals with adult-onset citrullinemia type II are encouraged to consume a diet rich in lipids and protein and low in carbohydrates. This may help to prevent hyperammonemia.
Additional information related to the treatment of adult-onset citrullinemia type II can be accessed through eMedicine.
Last updated: 7/11/2011
- Kobayashi K, Saheki T. Citrin Deficiency. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1181/. Accessed 7/11/2011.
- 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.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- 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|