Glutathionuria

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Glutathionuria
Glutathione structure
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, intellectual disability, ataxia, seizures
Complications	N/A
Onset	Infancy or early childhood
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the GGT1 gene
Risks	N/A
Diagnosis	Urine test, genetic testing
Differential diagnosis	Glutathione synthetase deficiency, gamma-glutamyl transpeptidase deficiency
Prevention	N/A
Treatment	Supportive care, symptomatic treatment
Medication	N/A
Prognosis	Variable, depends on severity
Frequency	Rare
Deaths	N/A

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

Gamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide.

Cause

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

As the disease is transmitted as an autosomal recessive trait, patients should be offered genetic counseling.

Signs and symptoms

Five of the patients also had central nervous system involvement.

Diagnosis

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

No specific treatment has been proposed or tested.

Prognosis

The prognosis of gamma-glutamyl transpeptidase deficiency is hard to predict as only seven patients have been described worldwide.

NIH genetic and rare disease info

• NIH info on Glutathionuria

Glutathionuria is a rare disease.