Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.

Abstract excerpt

Glutathione synthetase (GS) deficiency is a rare autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In the present study, genotype, enzyme activity, metabolite levels and clinical phenotype were evaluated in 41 patients from 33 families. From some of the patients, data on glutathione (GSH) levels and gamma-glutamylcysteine...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cells, Cultured
• Share to Dipeptides