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Arginase Deficiency Treatment & Management

  • Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD  more...
Updated: Sep 08, 2015

Medical Care

Protein intake is restricted in patients with arginase deficiency. A carefully monitored diet plan is necessary.

Because severe hyperammonemia is unusual, the need for intravenous therapy or hemodialysis is unlikely. In the event that intravenous therapy or hemodialysis is required, the need to omit intravenous arginine from the treatment regimen should be obvious.

Long-term therapy rests on provision of a low-protein diet and, possibly, oral sodium benzoate or sodium phenylbutyrate. A recent report suggests that glycerol phenylbutyrate supplies a more extended scavenger effect[10] ; this deserves further evaluation, as it could provide for an improvement in quality of life for affected individuals. A metabolic disease expert should guide the treatment of this rare condition.


Surgical Care

As has been the case for several years with all urea cycle disorders, orthoptic liver transplantation has been advocated as a definitive cure. In a recent report of long-term follow-up of 2 arginase-deficient patients, Silva et al claim the arrest of neurological progression without dietary restrictions.[11] Since the disorder is so uncommon, it is difficult to verify such claims based on a large patient series.



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  • Medical geneticist
  • Metabolic disease specialist
  • Dietitian
Contributor Information and Disclosures

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Robert D Steiner, MD Chief Medical Officer, Acer Therapeutics; Clinical Professor, University of Wisconsin School of Medicine and Public Health

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Acer Therapeutics; Retrophin; Raptor Pharma; Veritas Genetics; Censa Pharma<br/>Received income in an amount equal to or greater than $250 from: Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma.

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Compounds that comprise the urea cycle are sequentially numbered, beginning with carbamyl phosphate (1). At this step, the first waste nitrogen is incorporated into the cycle; N-acetylglutamate exerts its regulatory control on the mediating enzyme, carbamoyl phosphate synthetase (CPS), in this step. Compound 2 is citrulline, the product of condensation between carbamyl phosphate (1) and ornithine (8); the mediating enzyme is ornithine transcarbamylase. Compound 3 is aspartic acid, which is combined with citrulline to form argininosuccinic acid (ASA) (4); the reaction is mediated by ASA synthetase. Compound 5 is fumaric acid generated in the reaction that converts ASA to arginine (6), which is mediated by ASA lyase.
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