Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D000596:Amino Acids / Q000097:blood / Q000652:urine; D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D005978:Glutathione / Q000097:blood / Q000378:metabolism* / Q000652:urine; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology; D008297:Male; D012867:Skin / Q000201:enzymology; D005723:gamma-Glutamyltransferase / Q000378:metabolism*
D000596:Amino Acids; D005723:gamma-Glutamyltransferase; D005978:Glutathione