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 ?
Clinically, these patients exhibit features of both the mucopolysaccharidoses and the sphingolipidoses.
Sphingolipidoses are inherited lysosomal storage disorders caused by lysosomal hydrolase deficiency leading to storage of specific glycosphingolipids.
Gaucher disease: Understanding the molecular pathogenesis of sphingolipidoses.
Diseases: Metabolic disease, lysosomal storage disorders, mucopolysaccharidoses, Hurler-Scheie disorder, Hunters syndrome, Morquios syndrome, Sanfi lippos syndrome, Slys syndrome, Maroteaux-Lamy syndrome, sphingolipidoses, metachromatic leukodystrophy, Tay-Sachs disease, Krabbes disease, Wolmans disease, cholesteryl ester storage disease, Gauchers disease, Fabrys disease, Niemann-Pick disease, glycogen storage disorders, Pompes disease, von Gierkes disease, Andersens disease, McArdles disease, Coris disease, Hers disease, Taruis disease, Fanconi-