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Glutathione synthetase deficiency with 5-oxoprolinuria

Synonyms
5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY; 5-Oxoprolinuria; Gluthathione synthetase deficiency; PYROGLUTAMIC ACIDURIA; Reduced glutathione synthetase level

Summary

5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS) or 5-oxoprolinase (OPLAH; 614243). Glutathione synthetase deficiency (GSSD) 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). See 5-oxoprolinuria due to 5-oxoprolinase deficiency (260005). [from OMIM]

Available tests

14 tests are in the database for this condition.

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Clinical tests (14 available)

Molecular Genetics Tests

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  • Also known as: CNSHA6, GSHS, HEL-S-64p, HEL-S-88n, GSS
    Summary: glutathione synthetase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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