Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions.

摘要

Gaucher disease (GD) results from the deficiency of the lysosomal enzyme glucocerebrosidase. The phenotypes of patients with GD have been divided into three types, based on the presence and rate of progression of the neurologic manifestations. Both types 2 (GD2) and 3 (GD3) affect the central nervous system (CNS), but exhibit differing rates of neurological deterioration. Patients with GD2; the acute neuropathic form, present with symptoms either prenatally or during infancy, and all die before the age of 2 years, while GD3, the sub-acute neuropathic form, has a more protracted course. The three clinical forms are pan-ethnic in occurrence. The incidences of GD2 and GD3 in the general population are about 1 in 500,000 and 1 in 50,000 respectively [1].