Gamma-glutamyl transpeptidase deficiency
Gamma-glutamyl transpeptidase deficiency
Definition
Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.
Also known as glutathioninuria, glutathionuria, inborn error of glutathione hydrolase activity, inborn glutathione hydrolase activity disorder, rare inborn error of glutathione hydrolase activity — per MONDO