Gaucher Disease
Gaucher Disease is a genetic disorder caused by a deficiency of the enzyme glucocerebrosidase. This enzyme is essential for breaking down a fatty substance called glucocerebroside. When the enzyme is lacking, glucocerebroside accumulates in certain cells, leading to various health issues.
There are three main types of Gaucher Disease, with symptoms ranging from mild to severe. Common symptoms include enlarged spleen and liver, bone pain, and fatigue. Diagnosis typically involves blood tests and genetic testing, while treatment options may include enzyme replacement therapy and substrate reduction therapy to manage the condition.