Glutathionuria: gamma-glutamyl transpeptidase deficiency.
A mentally retarded young woman with severe behaviour problems was found to excrete large amounts of glutathione due to a generalized gamma-glutamyl transpeptidase deficiency. As in the only other case described in detail, plasma levels and renal reabsorption of the amino acids were normal. In the parents' urine, plasma and leukocytes, enzyme activity was normal but in their cultured fibroblasts it was below the minimum for the control range. An autosomal recessive mode of inheritance is suggested. The implications of these findings for possible role of the gamma-glutamyl cycle in amino acid transport are briefly discussed.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D000596:Amino Acids / Q000378:metabolism; D004912:Erythrocytes / Q000032:analysis; D005260:Female; D005978:Glutathione / Q000652:urine*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism; D007684:Kidney Tubules / Q000378:metabolism; D008297:Male; D005723:gamma-Glutamyltransferase / Q000172:deficiency*
D000596:Amino Acids; D005723:gamma-Glutamyltransferase; D005978:Glutathione