Gaucher's disease
Gaucher's disease is a genetic disorder caused by a deficiency of the enzyme glucocerebrosidase. This enzyme is essential for breaking down a type of fat called glucocerebroside. When the enzyme is lacking, fatty substances accumulate in various organs, particularly the spleen, liver, and bone marrow, leading to various health issues.
Symptoms of Gaucher's disease can include an enlarged spleen and liver, bone pain, and fatigue. There are three main types of the disease, with varying severity and age of onset. Treatment options include enzyme replacement therapy and substrate reduction therapy to manage symptoms and improve quality of life.