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Glutathionuria: γ-Glutamyl transpeptidase deficiency

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Abstract

A mentally retarded young woman with severe behaviour problems was found to excrete large amounts of glutathione due to a generalized γ-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 the possible role of the γ-glutamyl cycle in amino acid transport are briefly discussed.

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Wright, E.C., Stern, J., Ersser, R. et al. Glutathionuria: γ-Glutamyl transpeptidase deficiency. J Inherit Metab Dis 2, 3–7 (1979). https://doi.org/10.1007/BF01805554

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Keywords

  • Public Health
  • Enzyme Activity
  • Internal Medicine
  • Glutathione
  • Plasma Level