Lysosomal Storage Diseases

Abstract

The concept of lysosomal storage disease, proposed by Hers in 1965,1 embraces more than 25 genetic diseases with distinctive biochemical profiles (Table 1). Although relatively rare, these conditions have excited considerable interest among physicians and biochemists because they are amenable to heterozygote detection and prenatal diagnosis and are potentially treatable.Lysosomes are single membrane-bound cytoplasmic particles present in all cells. They contain hydrolytic enzymes that degrade proteins, polysaccharides and nucleic acids in an acid pH environment. Vacuoles containing cellular components to be degraded and foreign materials engulfed by the cell fuse with the primary lysosomes to form secondary lysosomes. Although . . .