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