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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 33573
A disorder that is characterized by increased glutathione concentration in the plasma and urine.
Gamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide.
Five of the patients also had central nervous system involvement.
Gamma-glutamyl transpeptidase catalyses the first step in the degradation of glutathione. No mutations have been identified in patients with gamma-glutamyl transpeptidase deficiency.
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.
As the disease is transmitted as an autosomal recessive trait, patients should be offered genetic counseling.
Management and treatment
No specific treatment has been proposed or tested.
The prognosis of gamma-glutamyl transpeptidase deficiency is hard to predict as only seven patients have been described worldwide.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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