What is Glutathione Synthetase Deficiency

Glutathione Synthetase Deficiency is a rare genetic disorder that affects the body's ability to produce an important antioxidant called glutathione. Glutathione plays a crucial role in protecting cells from damage caused by free radicals and toxins.

Individuals with this deficiency have lower levels of glutathione, which can lead to various health problems. Symptoms may include anemia, muscle weakness, fatigue, and neurological abnormalities. The severity of the condition can vary widely among affected individuals.

Glutathione Synthetase Deficiency is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Genetic testing can confirm the diagnosis.

Treatment options for this condition are limited and mainly focus on managing symptoms. This may involve supplementation with glutathione precursors or antioxidants, as well as supportive therapies to address specific symptoms. It is important for individuals with this deficiency to work closely with healthcare professionals to develop a personalized treatment plan.