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As with the complex glycoproteins, an understanding of all of the functions of the glycolipids is far from complete. Disorders Associated with Abnormal Sphingolipid Metabolism DisorderEnzyme DeficiencyAccumulating SubstanceSymptoms Tay-Sachs diseasesee joint health below tableHEXAGM2 gangliosiderapidly progressing mental retardation, blindness, early mortality Sandhoff-Jatzkewitz diseasesee below tableHEXBGloboside, GM2 gangliosidesame symptoms as Tay-Sachs, progresses more rapidly Tay-Sachs joint health AB variantsee below tableGM2 activator (GM2A)GM2 gangliosidesame symptoms as Tay-Sachs Gaucher's diseaseGlucocerebrosidaseGlucocerebrosidehepatosplenomegaly, mental retardation in infantile form, long bone degeneration Fabry's diseasea-Galactosidase AGlobotriaosylceramide; also called ceramide trihexoside (CTH)kidney failure, skin rashes Niemann-Pick disease, more info belowTypes A and BType C1Type C2Type DSphingomyelinasesee info belowsee info joint health belowSphingomyelinLDL-derived cholesterol LDL-derived cholesterol all types lead to mental retardation, hepatosplenomegaly, early fatality potential Krabbe's disease; globoid leukodystrophyGalactocerebrosidaseGalactocerebrosidemental retardation, myelin deficiency GM1 gangliosidosisGM1
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