Disease or Syndrome
sphingolipidosis
Subclass of:
Lysosomal Storage Diseases, Nervous System; Lipoidosis
Definitions related to sphingolipidoses:
  • A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2025
  • (sphingolipidosis) An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.
    NCI
    U.S. National Cancer Institute, 2021
  • (sphingolipidosis) Lysosomal storage diseases characterized by abnormal storage of spingolipids.
    CRISP Thesaurus
    National Institutes of Health, 2006
Try this search on: Farlex, Merriam-Webster, Oxford Dictionary, or Wordnik

This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.