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INTRODUCTION

Gaucher disease is a rare genetic disease. It is within the category of genetic disorders called inborn errors of metabolism, which are disorders that do not allow the body to turn food into energy.¹ Gaucher disease affects the recycling of glycolipids because of a deficiency of the lysosomal enzyme glucocerebrosidase. More than 40 hereditary lysosomal storage disorders exist, but Gaucher disease is the most common. An estimated 1 in 57,000 to 1 in 111,000 people will develop Gaucher disease.² It has a higher prevalence in Ashkenazi Jews, occurring in approximately 1 in 885 people.² The effects of Gaucher disease are classified into 3 categories (types 1, 2, and 3) on the basis of the presence of neurologic deterioration, age of presentation, and rate of disease progression.