Glutathione synthetase deficiency

Definition:

Glutathione synthetase deficiency is a rare autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In severe form, it is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. A milder form, which is only associated with haemolytic anaemia, has also been reported.

References:

[1]. Runa Njålsson, et al. Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. Hum Genet. 2005 Apr;116(5):384-9. [Content Brief]

[2]. Z Z Shi, et al. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet. 1996 Nov;14(3):361-5. [Content Brief]

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