Gaucher disease in children

Gaucher disease (GD) is the most common form of lysosomal storage disease (LSD), and is an autosomal recessive inheritance. Due to β-glucosidase-glucocerebrosidase deficiency, glucocerebroside is accumulated in monocytes of the liver, spleen, bone, and central nervous system. Its clinical features are hepatosplenomegaly, bone pain, and central nervous system involvement in children with type II and III symptoms. Gaucher cells are characteristic of this disease.

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