Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.

Background: Gaucher disease is the most common lysosomal storage disorder and is caused by a deficiency of the enzyme glucocerebrosidase. Enzyme deficiency leads to the accumulation of undegraded substrates, mainly in cells of the monocyte/ macrophage lineage, which is responsible for the clinical manifestations of the disease. To date, no study has attempted to identify the mutation spectrum of the glucocerebrosidase gene ( GBA) in Slovak patients Objectives: To identify mutations in 14 Slovak patients with confirmed glucocerebrosidase deficiency.