Sphingolipidoses: Detection of Heterozygotes and Homozygotes

Recent progress has made it possible to detect homozygotes and heterozygotes for many of the sphingolipidoses by assays of specific enzymes in tissues and body fluids. These assays are of importance in the differentiation of disorders which are phenotypically similar. They are also of importance in detecting heterozygous family members for accurate genetic counselling. Finally, these assays provide a means for the prenatal diagnosis of affected fetuses in utero in many instances. In this presentation we discuss enzyme assay for the diagnosis of homozygotes and detection of heterozygotes in Tay-Sachs disease, Sandhoff’s disease, juvenile GM2 gangliosidosis, juvenile GMl gangliosidosis, chronic Gaucher’s disease, Fabry’s disease, and fucosidosis.