Glucocerebrosidase deficiency diseases, also known as Gaucher disease or glucocerebrosidosis, are a group of genetic disorders characterized by a deficiency of the enzyme glucocerebrosidase. Glucocerebrosidase is responsible for breaking down a fatty substance called glucocerebroside, which is found in cells throughout the body. When glucocerebrosidase is deficient or not functioning correctly, glucocerebroside accumulates abnormally in the body's organs and tissues, leading to a variety of clinical manifestations.
There are three main types of Gaucher disease: type 1, type 2, and type 3. Type 1 is the most common and typically characterized by non-neurological symptoms. These may include enlarged spleen and liver, low blood platelets, anemia, and bone abnormalities. Type 2 is a severe form of the disease that typically presents early in infancy and leads to severe neurological symptoms, organ dysfunction, and early death. Type 3 is an intermediate form with both non-neurological and neurological symptoms, and its severity varies widely among affected individuals.
Glucocerebrosidase deficiency diseases are inherited in an autosomal recessive manner, meaning that individuals must inherit two abnormal copies of the glucocerebrosidase gene, one from each parent, to develop the disease. Genetic testing can diagnose the condition, and treatment options include enzyme replacement therapy, substrate reduction therapy, and bone marrow transplantation. These treatments aim to manage symptoms, improve quality of life, and slow down the progression of the disease.
