0071509674.pdf

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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