(39) It was reported to be the 4th common sphingolipidosis
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). 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. 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].