found: MeSH, June 12 2018(Sphingolipidoses. Scope note: 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. Entry terms: Sphingolipid Storage Diseases; Sphingolipidosis. Mapped to: Lysosomal storage diseases, Nervous system; Lipidoses)
