Eliglustat
Eliglustat is a medication used in the treatment of Gaucher disease, a rare genetic disorder that results in the accumulation of fatty substances in certain organs, particularly the spleen and liver. This condition is caused by mutations in the GBA gene, which leads to deficient activity of the enzyme glucocerebrosidase. Eliglustat works by inhibiting an enzyme involved in the production of the fatty substances, thereby reducing their accumulation and alleviating symptoms associated with Gaucher disease.
Impact of Gene Variant
The GBA gene encodes the enzyme glucocerebrosidase, which plays a crucial role in breaking down a fatty substance called glucocerebroside. Mutations in the GBA gene result in reduced or absent activity of glucocerebrosidase, leading to the accumulation of glucocerebroside in various cells and tissues. This accumulation is characteristic of Gaucher disease and contributes to the development of symptoms such as an enlarged spleen and liver, bone pain, and fatigue.
Ways to Recognize Problems
Symptoms of Gaucher disease can vary widely depending on the severity of the condition and the organs affected. Some common signs and symptoms include:
