Glucocerebrosidase Deficiency Disease, also known as Gaucher disease, is a rare genetic disorder that affects the body's ability to break down a fatty substance called glucocerebroside. Glucocerebrosidase is an enzyme responsible for breaking down glucocerebroside into glucose and ceramide.
When there is a deficiency or malfunction of the glucocerebrosidase enzyme, glucocerebroside begins to accumulate primarily in the cells of the spleen, liver, and bone marrow. This build-up leads to increased cell size and dysfunction which can cause a range of symptoms.
There are three main types of glucocerebrosidase deficiency disease, including type 1 (non-neuropathic), type 2 (acute neuropathic), and type 3 (chronic neuropathic). The type and severity of symptoms vary depending on the specific type.
Common symptoms of glucocerebrosidase deficiency disease can include an enlarged spleen and liver, anemia, fatigue, easy bruising or bleeding, bone pain, bone fractures, and decreased blood platelets. In some cases, more severe symptoms can occur, such as neurologic problems, seizures, cognitive decline, and abnormal eye movements.
Glucocerebrosidase deficiency disease is caused by mutations in the GBA gene, which is responsible for producing the glucocerebrosidase enzyme. This condition is inherited in an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, in order to develop the disease.
Treatment options for glucocerebrosidase deficiency disease include enzyme replacement therapy, substrate reduction therapy, and in some cases,
