Article
Patients with genetic defects in the gamma-glutamyl cycle.
Chemico-biological interactions - 24 Apr 1998
Ristoff E, Larsson A
Abstract excerpt
In the gamma-glutamyl cycle, hereditary defects have been described in four of the six enzymes namely: gamma-GC synthetase; GSH synthetase; gamma-glutamyl transpeptidase and 5-oxoprolinase. Mutants are still to be found in gamma-glutamyl cyclotransferase and in the dipeptidase. Deficiency of GSH...
Topics
- Erythrocytes
- Female
- Glutamate-Cysteine Ligase
- Glutathione
- Glutathione Synthase
- Humans
- Male
- Metabolism, Inborn Errors
- Mutation
- Pyroglutamate Hydrolase
- gamma-Glutamyltransferase
