Sphingolipidoses (also known as Sphingolipidosis, Sphingolipid Storage Diseases): 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 i

NIH MeSH · D013106Diseases

Sphingolipidoses

Also known asSphingolipidosis · Sphingolipid Storage Diseases · Sphingolipid Storage Disease · Storage Disease, Sphingolipid · Storage Diseases, Sphingolipid

Definition

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 classification

  • C10.228.140.163.100.435.825
  • C16.320.565.189.435.825
  • C16.320.565.398.641.803
  • C16.320.565.595.554.825
  • C18.452.132.100.435.825
  • C18.452.584.563.641.803
  • C18.452.648.189.435.825
  • C18.452.648.398.641.803
  • C18.452.648.595.554.825

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Common questions about Sphingolipidoses

What does Sphingolipidoses mean in medicine?
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. This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is Sphingolipidoses known by any other names?
Yes. Sphingolipidoses is also referred to as Sphingolipidosis, Sphingolipid Storage Diseases, Sphingolipid Storage Disease, Storage Disease, Sphingolipid in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does Sphingolipidoses sit in the medical classification?
Sphingolipidoses falls under the broader medical category "Diseases" in the MeSH hierarchy (tree numbers: C10.228.140.163.100.435.825, C16.320.565.189.435.825, C16.320.565.398.641.803). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of Sphingolipidoses?
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Source: NIH MeSH 2026 (D013106) — National Library of Medicine, public domain. View official MeSH record ↗