Mesh term Sphingolipidoses
Browse to parent terms:Lipidoses
Lysosomal Storage Diseases, Nervous System
Description
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.Browse to child terms:
Fabry Disease
Farber Lipogranulomatosis
Gangliosidoses
Gaucher Disease
Leukodystrophy, Globoid Cell
Niemann-Pick Diseases
Sea-Blue Histiocyte Syndrome
Sulfatidosis
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