Gaucher's Disease

PHYSICIANS often regard Gaucher's disease as a rare, esoteric, untreatable disorder. Fortunately, the more severe forms of the disease are indeed quite uncommon, but milder forms of Gaucher's disease are encountered frequently, particularly in the Jewish population. Moreover, effective treatment has recently become available, and the prospects for ultimately treating this relatively common disease with the use of gene transfer are quite promising.CauseGaucher's disease is an autosomal recessive disorder caused by a deficiency of glucocerebrosidase (glucosylceramidase),1 the enzyme required for the lysosomal degradation of lipids containing covalently bound sugars (glycolipids). In its absence the extremely insoluble glucocerebroside (glucosylceramide) . . .