European Journal of Molecular & Clinical Medicine

Abstract

Gaucher disease, an autosomal recessive disorder, results from the defective activity of acid β-glucosidase. About 55–60% of patients are diagnosed at <20 years of age. The pattern of presentation is distinctly bimodal, with peaks at <10-15 years and ~25 years. All patients with Gaucher disease have nonuniform infiltration of bone marrow by lipid-laden macrophages termed Gaucher cells. This phenomenon can lead to marrow packing with subsequent infarction, ischemia, necrosis, and cortical bone destruction. It is an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher. Parents may have only 1 GBA gene and, therefore, not show any signs of the disease, but be carriers of the disease. Gaucher disease type 1 is most commonly found among Ashkenazi Jews who have a high number of carriers of the defective GBA gene. There are 3 types of Gaucher’s disease based on clinical manifestations and involvement of CNS.¹