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Sphingolipidoses

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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.

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