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Peds Path: Storage Disease
lysosomal and glycogen
6
Pathology
Professional
09/30/2009
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Term
Tay-Sachs
 Definition
Lysosomal Storage Disease,
Hexosaminidase A
Term
Niemann-Pick
 Definition
Lysosomal Storage Disease,
Sphingomyelinase
Term
Gaucher
 Definition
Lysosomal Storage Disease,
Glucocerebrosidase,
Macrophages affected (spleen & Kuppfer in liver)--> "wrinkle tissue paper cytoplasm"
Term
Type I: Von Gierke
 Definition
Glycogen Storage Disease,
Liver (hepatocytes affected) & kidney
Term
Type II: Pompe
 Definition
Glycogen Storage Disease,
Heart (enlarged),
Glycogen Laden Myocytes
Term
Type V: McArdle
 Definition
Glycogen storage disease,
Skeletal muscle
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