Glutathionuria
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Glutathionuria | |
|---|---|
| |
| 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[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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Contributors: Deepika vegiraju, Prab R. Tumpati, MD
