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Old 01-17-2012
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Default lysosomal storage disorders

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