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Diseases

Genetic and Rare Diseases Information Center (GARD)

Arginase deficiency


Other Names for this Disease
  • ARG1 deficiency
  • Hyperargininemia
  • Argininemia
Related Diseases
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Overview

Arginase deficiency is an inherited metabolic condition in which the body is unable to process arginine (a building block of protein). As a result, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (a buildup of ammonia in the blood).[1][2] The features of arginase deficiency generally develop between ages one and three years. Signs and symptoms may include poor growth, spasticity (abnormal tensing of the muscles), developmental delay, loss of developmental milestones, intellectual disability, seizures, and microcephaly.[3][2][1] Arginase deficiency is caused by changes (mutations) in the ARG1 gene and is inherited in an autosomal recessive manner.[2][3] Treatment is focused on lowering arginine levels and preventing hyperammonemia. People with arginase deficiency must follow a very low protein diet under the supervision of a medical team with experience treating metabolic conditions. They may also need to take certain medications (called nitrogen-scavenging drugs).[3][1]
Last updated: 4/17/2016

References

  1. 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.
  2. Arginase deficiency. Genetics Home Reference. August 2013; http://ghr.nlm.nih.gov/condition/arginase-deficiency.
  3. Derek Wong, MD, Stephen Cederbaum, MD, and Eric A Crombez, MD. Arginase Deficiency. GeneReviews. August 2014; http://www.ncbi.nlm.nih.gov/books/NBK1159/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Arginase deficiency. This website is maintained by the National Library of Medicine.
  • MedlinePlus.gov provides more information on urea cycle disorders in general. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Arginase deficiency. Click on the link to view a sample search on this topic.
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.