Enzyme replacement therapy for the sphingolipidoses.

Abstract

The greatest progress in the field of inheritable disorders during the past decade was made in the understanding and control of lipid storage diseases. Since original demonstrations in 1965 and 1966 of the metabolic defects in Gaucher’s disease (6,7) Niemann-Pick disease (8), Fabry’s disease (9), and metachromatic leukodystrophy (17), specific enzyme deficiencies were demonstrated in ten heritable disorders of lipid metabolism. These discoveries paved the way for the development of facile procedures for the diagnosis of homozygotes, the detection of heterozygous carriers, and the monitoring of pregnancies at risk for any of these diseases (1–4). These applications of basic research endeavors have provided much relief from human anguish and suffering and they are in wide use at this time. However, there still remains much to be done for affected patients and compassionate physicians continue to seek further help in the treatment of hundreds of patients with these diseases. In particular, the therapy of patients with Type I (adult) Gaucher’s disease in whom skeletal involvement causes severe bone and joint pains, and patients with Fabry’s disease with intractable pains in arms and legs and progressive renal impairment deserves intensive attention. During the past three years much of our research efforts have been devoted to these two disorders.