sphingolipidoses


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sphingolipidoses

A group of inborn errors of sphingolipid metabolism in which lysosphingolipids accumulate, inhibiting protein kinase C activity in signal transduction, cell differentiation and in tumor promotion. See Ceramide lactoside lipidosis, Fabry's disease, Fucosidosis, Gaucher disease, Gangliosidosis, Globoid cell dystrophy, Krabbe's disease, Metachromatic leukodystrophy, Niemann-Pick disease, Sanhoff's disease, Tay-Sachs disease.

sphingolipidoses

A group of hereditary metabolic disorders featuring local accumulations of fatty material (glycolipids and phospholipids) in various parts of the body. These cannot be broken down further because of the absence of the necessary ENZYMES. The sphingolipidoses feature progressive degeneration of the retinal gangion cells with progressive loss of vision. See also NIEMANN-PICK DISEASE.
References in periodicals archive ?
Winchester syndrome (OMIM 277950), systemic fibromatosis (OMIM 228550), stiff skin syndrome (OMIM 184900), lipoid proteinosis (OMIM 247100), and storage diseases including mucopolysacharoses, sphingolipidoses and mucilipidoses [Osterby et al.
3) They observed that these patients clinically exhibited features of both MPSs and the sphingolipidoses and proposed the term mucolipidosis.
Sphingolipidoses are inherited lysosomal storage disorders caused by lysosomal hydrolase deficiency leading to storage of specific glycosphingolipids.