Glutathionuria
Glutathionuria
Glutathionuria (pronounced gloo-ta-thigh-on-your-ee-uh) is a rare metabolic disorder characterized by the presence of the antioxidant glutathione in the urine.
Etymology
The term "Glutathionuria" is derived from the words "Glutathione", a compound present in the body, and "-uria", a suffix used in medical terminology to denote a condition related to urine.
Definition
Glutathionuria is a condition in which the body is unable to break down the antioxidant Glutathione. This results in an excess of glutathione being excreted in the urine. It is a rare metabolic disorder and is usually diagnosed in infancy or early childhood.
Symptoms
Symptoms of Glutathionuria may include developmental delay, intellectual disability, seizures, and problems with movement and balance. However, some individuals with this condition may not show any symptoms.
Causes
Glutathionuria is caused by mutations in the GSS gene. This gene provides instructions for making an enzyme called glutathione synthetase, which is involved in the production of glutathione. Mutations in the GSS gene reduce the activity of glutathione synthetase, leading to a buildup of glutathione in the body.
Diagnosis
Diagnosis of Glutathionuria is typically made through a urine test, which can detect high levels of glutathione. Genetic testing can also be used to identify mutations in the GSS gene.
Treatment
There is currently no cure for Glutathionuria. Treatment is focused on managing symptoms and may include medications to control seizures and physical therapy to improve movement and balance.
Related Terms
External links
- Medical encyclopedia article on Glutathionuria
- Wikipedia's article - Glutathionuria
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