PMID: 6118466Jan 1, 1980

Glutathionuria: gamma-glutamyl transpeptidase deficiency

Journal of Inherited Metabolic Disease
E C WrightA D Patrick


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.


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Related Concepts

Amino Acid Metabolism, Inherited Disorders
Gamma-glutamyl transferase
Reduced Glutathione
Renal Tubule Structure
Profound Mental Retardation

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