glutathione synthetase deficiency
- glutathione synthetase deficiency
- glu·ta·thi·one syn·the·tase de·fi·cien·cy (gloo″tə-thiґōn sinґthə-tās) an autosomal recessive aminoacidopathy due to mutation in the GSS gene (locus: 20q11.2), which encodes glutathione synthetase, resulting in decreased levels of glutathione and altering the γ-glutamyl cycle; γ-glutamylcysteine synthesized futilely is converted to excess 5-oxoproline and cysteine. It occurs in two forms. Deficiency of glutathione synthetase confined to the erythrocytes results in a well-compensated hemolytic anemia; generalized deficiency of the enzyme causes high levels of 5-oxoproline in plasma and urine, metabolic acidosis, and often neurologic dysfunction, along with hemolytic anemia.
Medical dictionary.
2011.
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