About Gaucher Disease

Type 3 Gaucher Disease

Type 3 is also rare and affects fewer than 1 in 100,000 people. This form also causes neurological signs and symptoms, but they are less severe than in Type 2 Gaucher disease. Signs and symptoms appear in early to late childhood, and patients with Type 3 Gaucher disease live well into adulthood.

Type 3 Gaucher disease has a variable expression and was first reported in families in the Norbottnian region of Sweden. It generally presents early in childhood with similar symptoms to Type1 but theses occur earlier and are more severe. Subsequently, patients develop neurological problems which may include seizures, inco-ordination, curvature of the spine and learning problems.

Type 3 Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene on chromosome 1q21. This gene codes for glucocerebrosidase, which is a lysosomal enzyme. Enzymes are proteins that catalyze chemical reactions of other substances. Glucocerebrosidase helps cleave glucose from glucocerebrosides. Therefore, when there is a deficiency in glucocerebrosidase, there will be an accumulation of glucosylceramide in gaucher cells of the liver, spleen and bone marrow. Diagnosis of Gaucher disease can be confirmed by demonstrating a cellular deficiency in glucocerebrosidase enzyme activity.