Mondo Description Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

Uniprot Description A very rare, autosomal recessive metabolic disorder characterized by the presence of glutathione in the urine, due to generalized gamma-glutamyl transpeptidase deficiency. Most patients manifest mild to moderate mental retardation, and behavioral disturbance. Seizures, tremor, marfanoid features and strabismus are observed in some patients.