Genetic basis of the lipid storage disorders

Abstract

The lipid storage diseases are a family of inherited disorders that result from the deficiency of a specific enzyme activity and the accumulation of complex lipid substrates in the lysosome, resulting in physiologic and morphologic alterations that lead to characteristic clinical manifestations. The molecular bases of the lipid storage diseases have been characterized, including the delineation of the underlying specific gene defects, which has led to improved diagnosis, prenatal diagnosis and carrier identification. This review will focus on advances in the delineation of the genetic basis of Gaucher, Fabry and Niemann-Pick diseases and the current status of treatment for these disorders. Newborn screening strategies for the lipid storage diseases, focusing on Krabbe disease as a prototype, and future strategies for treatment, such as substrate reduction, chaperone and gene therapy approaches, will also be discussed.

Keywords:

• Fabry disease
• Gaucher disease
• Krabbe disease
• Lipid storage
• Lysosomal storage diseases
• Niemann-Pick Disease