Musings on genome medicine: enzyme-replacement therapy of the lysosomal storage diseases.
The lysosomal storage diseases, such as Gaucher's disease, mucopolysaccharidosis I, II and IV, Fabry's disease, and Pompe's disease, are rare inherited disorders whose symptoms result from enzyme deficiency causing lysosomal accumulation. Until effective gene-replacement therapy is developed, expensive, and at best incomplete, enzyme-replacement therapy is the only hope for sufferers of rare lysosomal storage diseases. Preventive strategies involving carrier detection should be a priority toward the successful management of these conditions.
Nathan
David G
DG
Dana-Farber Cancer Institute, 44 Binney Street, Boston, MA 02115, USA.
Orkin
Stuart H
SH