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GTR Home > Conditions/Phenotypes > Glutathione synthetase deficiency without 5-oxoprolinuria

Glutathione synthetase deficiency without 5-oxoprolinuria

Synonyms
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 6; Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to

Summary

Two forms of glutathione synthetase deficiency have been described: a mild form, here referred to as congenital nonspherocytic hemolytic anemia-6 (CNSHA6), and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement (266130). [from OMIM]

Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • 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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