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.
Year introduced: 1992(1974)
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Subheadings:
Tree Number(s): 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
MeSH Unique ID: D013106
Entry Terms:
- Sphingolipid Storage Diseases
- Sphingolipid Storage Disease
- Storage Disease, Sphingolipid
- Storage Diseases, Sphingolipid
- Sphingolipidosis