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.
Links
(2) - ARTICLES
(2) - BOOKS
subject heading
Number of the records: 1
openseadragon
This site uses cookies to make them easier to browse. Learn more about
how we use cookies.