ABSTRACT
The sphingolipidoses are a group of inborn errors of metabolism caused by enzyme defects that involve the sphingolipids, which derive their name from sphingosine, an 18-carbon amino alcohol (Table 1; Fig. 1). The sphingolipidoses include Fabry disease, Farber disease, Gaucher disease (GD), GM1-gangliosidoses, GM2-gangliosidoses, Krabbe disease, metachromatic leukodystrophy (MLD), and Niemann-Pick disease (NPD) (Fig. 2). The neuronal ceroid lipofuscinoses (NCLs) (Batten disease) are a genetically heterogenous group of severe neurodegenerative disorders grouped together because of the constellation of clinical findings of seizures, blindness, motor, and cognitive decline and the presence of autofluorescent inclusions with a characteristic ultrastructural appearance within the cytoplasm of neurons and other cells.
