Tay-Sachs
β-N-hexosaminidase-A
Neurons
Glycolipid
CNS
Gaucher
β-D-glycosidase
Macrophages
Glycolipid
Spleen, liver
Hurler
α
-L-iduronidase
Fibroblasts,
Dermatan
Skeletal system
chondroblasts,
sulfate
osteoblasts
Niemann-Pick
Sphingomyelinase
Oligodendrocytes,
Sphingomyelin
CNS
fibroblasts
Inclusion (I)–
N-acetylglucosamine-
Fibroblasts,
Glycoproteins
Nervous and
cell
phosphotransferase
macrophages
and
skeletal systems
glycolipids
(liver unaffected)
LYSOSOMAL STORAGE DISEASES
OrganMost
Disease
Enzyme Deficit
Cellular Site
Accumulation
Affected
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