sphingolipidoses
Last reviewed 11/2022
Sphingolipidoses are lysosomal diseases which result from defective metabolism of sphingolipids.
Sphingolipids are important structural components of lipid membranes and are involved in cellular signalling.
The sphingolipidoses:
- show variable severity
- generally cause progressive peripheral and central nervous system disease
Variants of Gaucher and Niemann-Pick disease which do not affect the nervous system are termed non-neuronopathic.