Glutathione synthetase deficiency
Glutathione synthetase deficiency (pronounced: gloo-tuh-THY-own sin-thuh-tase deficiency) is a rare genetic metabolic disorder. It is characterized by low levels of an important molecule called glutathione, which helps to prevent damage to cells.
Etymology
The term "Glutathione synthetase deficiency" is derived from the name of the enzyme, glutathione synthetase, which is deficient in this condition. "Glutathione" is derived from the Greek words "gloutos" meaning "buttock" and "thione" meaning "sulfur". "Synthetase" is derived from the Greek word "synthetos" meaning "put together". "Deficiency" is derived from the Latin word "deficere" meaning "to lack".
Symptoms
The symptoms of Glutathione synthetase deficiency can vary greatly among affected individuals. They may include hemolytic anemia, metabolic acidosis, neurological symptoms, and recurrent bacterial infections.
Causes
Glutathione synthetase deficiency is caused by mutations in the GSS gene. This gene provides instructions for making the enzyme glutathione synthetase. Mutations in the GSS gene reduce the activity of this enzyme, leading to a shortage of glutathione and an accumulation of other substances, which can damage cells.
Diagnosis
Diagnosis of Glutathione synthetase deficiency is based on the symptoms, clinical examination, and confirmed by laboratory testing showing low levels of glutathione in red blood cells and increased levels of 5-oxoproline in urine.
Treatment
Treatment of Glutathione synthetase deficiency is focused on managing the symptoms and preventing complications. This may include antioxidant therapy, vitamin C and vitamin E supplements, and treatment for anemia and metabolic acidosis.
See also
- Glutathione
- GSS gene
- Hemolytic anemia
- Metabolic acidosis
- Neurological symptoms
- Antioxidant
- Vitamin C
- Vitamin E
External links
- Medical encyclopedia article on Glutathione synthetase deficiency
- Wikipedia's article - Glutathione synthetase deficiency
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