Disease:
Storage
Diseases & Deficiencies
Hurler’s syndrome
Enzyme deficiency
Substance Stored:
a-L-iduronidase
Mucopolysaccharide
I
Hunter’s syndrome
Sanfillippo’s syn
Hand-Schűller-Christian
Gaucher disease
Niemann-Pick disease
Iduronidate sulfatase
Mucopolysaccharide
II
Form A: heparin
N-sulfatase
Mucopolysaccharide
III
Form B: N-acetyl a-glucosamine
Cholesterol
b-glucocerebrosidase
Glucocerebrosides
Sphingomyelinase
Sphingomyelin
Tay-Sachs disease
Hexosaminidase A
GM2 ganglioside
