Glutathionuria is a rare disease caused by mutations in GGT1. Most patients presented involvement of the central nervous system in the form of moderate mental retardation, behavioral disturbance, and seizures. GGT1 encodes gamma-glutamyltransferase, the enzyme that cleaves the gamma-glutamyl bond of glutathione to produce cysteinylglycine and glutamate.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H02750 Glutathionuria
