Sphingolipidoses Flashcards
Gangliosides are primarily found in the nervous system and have several roles including receptors, antigenic specificity in blood groups, and intracellular communication/signal transduction as well as modulators of enzyme activities. Defects in degradation of these glycosphingolipids in lysosomes leads to a variety of diseases.
Generalized Gangliosides
Enzyme Deficiency - GM1-β- galactosidase
Elevated Lipid - GM1
Symptoms: mental retardation, hepatomegaly, skeletal abnormalities
Tay-Sachs Disease
(KNOW THE SYMPTOMS)
Enzyme Deficiency - Hexosaminidase A
Elevated Lipid - GM2
Symptoms - mental retardation, skeletal weakness, blindness
Sandhoff’s Disease
(accelerated version of Tay-Sachs)
Enzyme Deficiency - Hexoaminidase A and B
Elevated Lipid - Globoside and GM2
Symptoms - more rapid progression of the Tay-Sachs symptoms
Fabry’s Disease
Enzyme Deficiency - α-galactosidase
Elevated Lipid - Cer-glc-gal-gal
Symptoms - skin rash and kidney failure
Ceramide lactoside lipidosis
Enzyme Deficiency - β-galactosidase
Elevated Lipid - Lactosyl ceramide (cer-glc-gal)
Symptoms - brain damage and mental retardation
Metachromatic Leukodystrophy
Enzyme Deficiency - Aryl-sulfatase A
Elevated Lipid - Cer-gal-SO3H
Symptoms - mental retardation
Krabbe’s Disease
Enzyme Deficiency - β-galactosidase
Elevated Lipid - Galactosyl-ceramide
Symptoms - mental retardation
Gaucher’s Disease
Enzyme Deficiency - β-glucosidase
Elevated Lipid - Glucosyl-ceramide
Symptoms - enlarged liver and spleen; variable symptoms
Niemann-Pick Disease
Enzyme Deficiency - Sphingomyelinase
Elevated Lipid - Sphingomyelin
Symptoms - hepatomegaly, enlarged spleen and fatal
Farber’s Disease
Enzyme Deficiency - Ceramidase
Elevated Lipid - Ceramide
Symptoms - mental retardation
