[From gene to disease; Gaucher disease].

Gaucher disease is an autosomal recessive inherited lysosomal storage disorder due to mutations in the glucocerebrosidase gene located on chromosome 1q21. Hepatosplenomegaly and bone disease due to massive accumulation of undegraded glucocerebroside in macrophages found in the liver, spleen and bone marrow dominate the clinical picture in type 1 disease. In rare instances (type 2 and 3 disease) the central nervous system is involved. Phenotype-genotype correlations are poor. Diagnosis is possible by enzyme assay at clinical genetic centres in the Netherlands. The availability of effective therapies emphasizes the need for early recognition of the disease.