This may reflect the fact that the first three patients were identified by screening for amino acid defects in populations of mentally retarded patients.
The patients have increased glutathione concentrations in plasma and urine, butthe cellular levels are normal. In addition to glutathionuria, urinary levels of gamma glutamyl cysteine and cysteine are also increased.
Gamma glutamyl transpeptidase deficiency is transmitted by autosomal recessive inheritance.
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