GAUCHER DISEASE TYPE-I: PHENOTYPIC CHARACTERIZATION, PATHOLOGICAL MECHANISM AND CLINICAL MANAGEMENT

Sikander Ali*, Andleeb Chandni and Rida Nadeem

ABSTRACT

Gaucher disease is a rare and recessive form of genetic disease in autosomal cells which occurs due to the deficiency of β-glucocerebrosidase enzyme. Philippe Gaucher for the very first described the gaucher disease in his doctoral thesis which was presented in 1882. Gaucher cells are 20-100μm in diameter with irregular nucleus and distinctive wrinkles in cytoplasm. Gaucher's disease appears during infancy but very less in adolescence. Type 1 gaucher disease is the most common and non-neuronopathic. It prevails in the Ashkenazi Jewish population. Beta-glucocerebrosidase enzyme is coded by glucocerebrosidase gene (GBA) which is located on chromosome 1q21. More than 200 mutations in GBA have been reported to be associated with GD. glucocerebroside is broken down into a sugar (glucose) and a simpler fat molecule (ceramide) by the action of glucocerebrosidase. Glucocerebroside and related substances accumulate within cells to toxic level in the absence of the activity of glucocerebrosidase enzyme. The characteristic features of GD include low white blood cell count, anemia, pain in abdomen, enlargement of spleen, deformity in distal femur resembling to Erlenmeyer flask. Mostly, macrophages are the first one to be targeted in Gaucher‟s disease. Frequently, enzyme assay of glucocerebrosidase is used to diagnose GD. Gaucher disease can be treated by proper management and treatment methods.

Keywords: Gaucher disease; Glucocerebrosidase; Glucosylceramide; Enzyme Replacement Therapy.