Disorders in the metabolism of glutathione and imidazole dipeptides

Abstract

Genetic defects in humans have been described in five of the six enzymes of the γ-glutamyl cycle. Glutathione synthetase deficiency is the most common recognised disorder. The most severe form is associated with metabolic acidosis, haemolytic anaemia, 5-oxoprolinuria and central nervous system (CNS) damage. γ-Glutamylcysteine synthetase deficiency is also associated with haemolytic anaemia, and in some cases with disturbed neuromuscular function and generalised aminoaciduria. γ-Glutamyl transpeptidase deficiency has been found in some patients with CNS involvement and glutathionuria.