The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C.

Frances M Platt

Biochemical Society transactions 2023 Oct 31

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Lysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipated links to other rare and common human diseases using Niemann-Pick disease type C as an example. © 2023 The Author(s).

Citation

Frances M Platt. The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C. Biochemical Society transactions. 2023 Oct 31;51(5):1777-1787