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sphingolipidoses

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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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