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HomePediatrics: Genetics and Metabolic DiseaseGlutathione Synthetase Deficiency

Glutathione Synthetase Deficiency


Glutathione synthetase (GS) deficiency, first described in 1970, is a rare autosomal-recessive inborn error of glutathione metabolism characterized by severe metabolic acidosis, hemolytic anemia, and neurological problems.
Biochemical findings include massive excretion of 5-oxoproline in the urine. In mild glutathione synthetase deficiency, which is characterized by hemolytic anemia, enzyme deficiency primarily occurs in erythrocytes. See the image below.

Biochemical pathway of glutathione synthetase.

Biochemical pathway of glutathione synthetase.

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