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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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Tests & Diagnosis

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How is arginase deficiency diagnosed?

A diagnosis of arginase deficiency is often suspected based on the presence of characteristic signs and symptoms. Special blood tests to measure plasma levels of arginine and ammonia may then be ordered to further investigate the concerning symptoms. A diagnosis of arginase deficiency is confirmed when genetic testing identifies a disease-causing change (mutation) in each copy of the ARG1 gene or a blood test demonstrates reduced arginase enzyme activity in the red blood cells.[1][2]

In some cases, arginase deficiency in a newborn may be suspected if elevated levels of arginine are found through newborn screening.[2] For more information on newborn screening, including which conditions are screened for in each state, please visit Baby's First Test.
Last updated: 5/10/2016

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. Derek Wong, MD, Stephen Cederbaum, MD, and Eric A Crombez, MD. Arginase Deficiency. GeneReviews. August 2014; http://www.ncbi.nlm.nih.gov/books/NBK1159/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening

  • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
  • The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
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.