Some of the common types of sphingolipidoses include:
- Tay-Sachs disease: Characterized by a deficiency of the enzyme hexosaminidase A, leading to the accumulation of GM2 ganglioside in neurons. - Gaucher disease: Results from a deficiency in glucocerebrosidase, causing accumulation of glucocerebroside in macrophages. - Niemann-Pick disease: Caused by a deficiency in sphingomyelinase, leading to the accumulation of sphingomyelin. - Fabry disease: Linked to a deficiency in alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide.
