Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Narrower headings

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MeSH Record

Synonyms

5 entry terms
  • Sphingolipid Storage Diseases
  • Sphingolipidosis
  • Sphingolipid Storage Disease
  • Storage Disease, Sphingolipid
  • Storage Diseases, Sphingolipid

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

general or unspecified; prefer specifics

MeSH Record

History Note

1992(1974)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.435.825w
  2. C16w.320w.565w.189.435.825w
  3. C16w.320w.565w.398w.641w.803w
  4. C16w.320w.565w.595w.554.825w
  5. C18.452w.132.100.435.825w
  6. C18.452w.584w.563w.641w.803w
  7. C18.452w.648w.189.435.825w
  8. C18.452w.648w.398w.641w.803w
  9. C18.452w.648w.595w.554.825w

MeSH Record

NLM Classification

QU 265.5.L5

AMA Style

References

  1. National Library of Medicine. Sphingolipidoses. Medical Subject Headings (MeSH). 2026. Unique ID D013106. http://id.nlm.nih.gov/mesh/2026/D013106
  2. Sphingolipidoses. In: Wikipedia. https://en.wikipedia.org/wiki/Sphingolipidoses
  3. Sphingolipidoses. In: Wikidata. https://www.wikidata.org/wiki/Q2309612