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Arginase deficiency

Other Names for this Disease
  • ARG1 deficiency
  • Argininemia
  • Hyperargininemia
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Arginase deficiency is an inherited condition in which the body does not properly process protein in the diet.  Individuals with this disease appear healthy at birth, but later develop symptoms between the ages of one and three.  Symptoms of arginase deficiency include muscle stiffness (spasticity), decreased growth and intellectual development, and seizures.  Arginase deficiency is caused by mutations in the ARG1 gene.  Treatment may include limiting the amount of protein in the diet, using special dietary formulas that are low in protein, and taking certain medications to remove excess nitrogen from the blood.[1][2]
Last updated: 9/13/2012


  1. Cederbaum A and Crombez EA. Arginase Deficiency. GeneReviews. February 2012; Accessed 9/12/2012.
  2. Arginase deficiency. Genetics Home Reference. October 2006; Accessed 9/12/2012.
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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.
  • 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. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.