Gaucher disease: Review and perspectives on treatment

Abstract

Gaucher disease is an autosomal recessive disease and the most prevalent lysosomal storage disorder with an incidence of about 1 in 20,000 live births. Despite the fact that GD consists of a phenotypic spectrum with varying degrees of severity, it has been subdivided in three subtypes according to the presence or absence of neurological involvement. It is also the most common genetic disease among Ashkenazi Jews, with a carrier frequency of 1 in 10 (Barranger and Ginns, 1989). This panethnic disease involves many organ systems (summarized in Table 1). The disease is highly variable as a consequence of modifier genes whose identities remain unknown. However, Gaucher disease is progressive in all of its forms. Genotype/phenotype correlations are not reliable with the exception that the N370S allele, even if present in a single dose, protects from a neurodegenerative course (Tsuji et al., 1988).