sphingolipidosis


Also found in: Medical.

sphingolipidosis

[¦sfiŋ·gō‚lip·ə′dō·səs]
(medicine)
Any of a group of hereditary metabolic disorders characterized by excessive accumulations of certain glycolipids and phospholipids in various tissues of the body.
References in periodicals archive ?
(39) It was reported to be the 4th common sphingolipidosis in Turkey.
It is an autosomal recessive sphingolipidosis caused by deficient activity of the lysosomal enzyme galactosylceramide beta-galactosidase (GALC) which degrades galactosylceramide, a main component of myelin, and other terminal beta-galactose-containing sphingolipids, including psychosine (galactosylsphingosine).[1] Increased psychosine levels lead to widespread destruction of oligodendroglia and impaired Schwann cell function in the central and peripheral nervous systems and to subsequent demyelination.[2] It is so named due to the globoid cells (which are actually storage cells) infiltrating around cerebral blood vessels.
fabry, s disease:classification as sphingolipidosis and partial characterization of a novel glycolipid.
In fact, dysfunction of the human gene encoding ceramidases leads to typical lysosomal sphingolipidosis, termed Farber's disease, which is a fatal neurodegenerative condition resulting from accumulations of ceramides in lysosomes [8, 9].