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defective degradation of sphingolipids, Tay-Sachs, gangliosidosis, Sandhoff's, Fabry, Gaucher's, Krabbe's, metachromatic leukodystrophy, Niemann-Pick, Farber
MPS II - deficiency of IDURONATE SULFATASE - GAG's in the urine, no corneal clouding, X linked, noticeable after first year of life
deficiency of HEXOAMINOSIDASE, cherry red macula, accumulation of GANGLIOSIDE with onion shell inclusions, infantile - no enzyme activity, muscle weakness, seizures, blindess, paralysis, death at 4-5. Late onset - some enzyme activity, muscle weakness and twitching
Deficiency of GALACTOSIDASE, accumulation of CERAMIDE TRIHEXOSIDE, reddish skin lesions (bathing trunk distribution, risk of kidney failure, heart failure, stroke
deficiency of GLUCOCEREBROSIDASE, accumulation of GLUCOCEREBROSIDES, crumpled tissue paper appearance of cytoplasm, severe infantile form can lead to mental retardation, adult form (99%) - no brain damage but severe hepatosplenomegaly and osteoporosis
deficiency of ACID SPHINGOMYELINASE (ASM), accumulation of SPHINGOMYELIN in types A (infantile-death) and B(visceral -early adulthood), low sphingomyelin in types C and D - CHERRY RED MACULA AS WELL
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