Glutathionuria
Other Names: Gamma-glutamyltranspeptidase deficiency; GGT deficiency; GGT1 deficiency; GTG deficiency; Gamma-glutamyltransferase deficiency
A disorder that is characterized by increased glutathione concentration in the plasma and urine.
Epidemiology[edit | edit source]
Gamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide.
Cause[edit | edit source]
Gamma-glutamyl transpeptidase catalyses the first step in the degradation of glutathione. No mutations have been identified in patients with gamma-glutamyl transpeptidase deficiency.
Inheritance[edit | edit source]
As the disease is transmitted as an autosomal recessive trait, patients should be offered genetic counseling.
Signs and symptoms[edit | edit source]
Five of the patients also had central nervous system involvement.
Diagnosis[edit | edit source]
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.
Treatment[edit | edit source]
No specific treatment has been proposed or tested.
Prognosis[edit | edit source]
The prognosis of gamma-glutamyl transpeptidase deficiency is hard to predict as only seven patients have been described worldwide.
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NIH genetic and rare disease info[edit source]
Glutathionuria is a rare disease.
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