U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Glutathione synthetase deficiency with 5-oxoprolinuria

Glutathione synthetase deficiency with 5-oxoprolinuria

Synonyms
5-Oxoprolinuria; Gluthathione synthetase deficiency; PYROGLUTAMIC ACIDURIA; Reduced glutathione synthetase level

Summary

Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001). [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GSHS, HEL-S-64p, HEL-S-88n, GSS
    Summary: glutathione synthetase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.