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Genetic and Rare Diseases Information Center (GARD)

Arginase deficiency

Other Names for this Disease
  • ARG1 deficiency
  • Hyperargininemia
  • Argininemia
Related Diseases
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How might arginase deficiency be treated?

The main goals in the treatment of arginase deficiency are lowering arginine levels and preventing hyperammonemia (a buildup of ammonia in the blood). People with arginase deficiency must be closely supervised by a medical team with experience treating metabolic conditions and often require frequent blood tests to check their arginine levels. Because arginine is a building block of protein, affected people must follow a diet that is very low in protein. In fact, it is often recommended that people with arginase deficiency eat the minimal amount of protein needed to maintain good health, which varies based on many factors including age and weight. Protein is found in high amounts in meat, fish, beans, dairy products, eggs and nuts; however, it also occurs in foods like pasta, fruit and vegetables. Under the guidance of a metabolic dietician, people with arginase deficiency must closely monitor all the protein they eat. They are often advised to drink special formulas and/or buy medical foods in which the protein levels are tailored to fit their needs. Affected people may also need to take certain medications (called nitrogen-scavenging drugs) to reduce levels of arginine.[1][2]

During an episode of severe hyperammonemia, people with arginase deficiency are generally treated in the hospital. They may require dialysis, nitrogen-scavenging medications, intravenous (IV) fluids/feeds or other treatments. These treatments are given to quickly reduce blood ammonia levels and prevent brain damage.[1]

GeneReviews offers more specific information on the treatment of arginase deficiency and urea cycle disorders, in general. Please click on the links to access these resources.
Last updated: 4/17/2016

  1. Derek Wong, MD, Stephen Cederbaum, MD, and Eric A Crombez, MD. Arginase Deficiency. GeneReviews. August 2014;
  2. Schlune A, Vom Dahl S, Häussinger D, Ensenauer R, Mayatepek E. Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. Amino Acids. September 2015; 47(9):1751-1762.

Management Guidelines

  • 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.
    Arginase Deficiency
    Urea Cycle Disorders Overview
  • The NORD Physician Guide  for Arginase 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. 

Clinical Trials & Research for this Disease

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed 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.

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.

Generic Name Glycerol phenylbutyrate
Trade Name
(Manufacturer Name)
(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

Other Names for this Disease
  • ARG1 deficiency
  • Hyperargininemia
  • Argininemia
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.