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.
 | This medical sign article is a stub. You can help WikiMD by expanding it. |
NIH genetic and rare disease info[edit source]
Glutathionuria is a rare disease.
| Glutathionuria Resources | ||
|---|---|---|
|
| |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Contributors: Deepika vegiraju
