Glutathionuria. Gamma-glutamyl transpeptidase deficiency.
Incidence
Rare autosomal recessive disease detected in 5 patients in 4 families worldwide.
Clinical Characteristics
Gamma-glutamyl transpeptidase deficiency is a rare autosomal recessive disease detected in 5 patients in 4 families worldwide. Affected patients exhibit increased glutathione concentration in plasma and urine. Three patients have had central nervous system involvement. Gamma-glutamyl transpeptidase catalyses the first step in the degradation of glutathione. The diagnosis is based on the finding of glutathionuria, elevated levels of glutathione in plasma and decreased activity of gamma-glutamyl transpeptidase in nucleated cells.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
The diagnosis is based on the finding of glutathionuria, elevated levels of glutathione in plasma and decreased activity of gamma-glutamyl transpeptidase in nucleated cells. All pts have glutathionuria up to 1 gm/day (normal is less than 10 mg/d)