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Diseases

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.

Treatment

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on organic acidemias.

Clinical Trials & Research for this Disease

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Studies of Children with Metabolic or Other Genetic Disorders¬†which may be of interest to you. To find this trial, click on the link above.
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.