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Genetic and Rare Diseases Information Center (GARD)

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Glutathione synthetase deficiency


Other Names for this Disease

  • 5-Oxoprolinuria
  • Oxoprolinase deficiency
  • Pyroglutamic aciduria
  • Pyroglutamicaciduria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Glutathione synthetase deficiency is type of organic acidemia that affects the production glutathione. Glutathione helps prevent cell damage, build DNA and proteins, and process medications and cancer-causing compounds.[1] People can have mild, moderate, or severe disease. Mild disease may cause hemolytic anemia and 5-oxoprolinuria (excess excretion of 5-oxoproline in urine). Moderate disease may cause anemia, 5-oxoprolinuria, and metabolic acidosis in early infancy. Severe disease may cause anemia, 5-oxoprolinuria, metabolic acidosis, neurological symptoms (e.g., seizures, learning disability, loss of coordination), and recurrent infections.[1] It is caused by mutations in the GSS gene and is inherited in an autosomal recessive fashion.[1]
Last updated: 2/4/2011

References

  1. Glutathione synthetase deficiency. Genetics Home Reference. 2006; http://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency. Accessed 2/4/2011.
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Basic Information

  • The Organic Acidemia Association provides further information on this topic. Click on Organic Acidemia Association to view this information page.
  • The Merck Manual provides information on metabolic acidosis. Click on Merck Manual to view this information page.
  • Genetics Home Reference (GHR) contains information on Glutathione synthetase deficiency. This website is maintained by the National Library of Medicine.
  • 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.

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.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The 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 Glutathione synthetase deficiency. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
Other Names for this Disease
  • 5-Oxoprolinuria
  • Oxoprolinase deficiency
  • Pyroglutamic aciduria
  • Pyroglutamicaciduria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.