lysosomal dxr Flashcards
1
Q
Fabry’s
A
alpha-galactosidase A enzyme, renal disease
2
Q
Gacuher’s
A
Glucocerebrosidase enyme, macrophages look like crumpled tissue paper, MOST common
3
Q
Niemann-Pick
A
Sphingomyelinase enzyme, cherry-red spot on macula, HSM
4
Q
Tay-Sachs
A
Hexominadase A enzyme, GM2 ganglioside builds up, cherry-red spot on macula, NO HSM
5
Q
Krabbe’s
A
Galactocerebrosidase enzyme, Peripheral neuropathy
6
Q
Metachromatic leukodystrophy
A
Arylsulfatase A enzyme, central and peripheral demyelination with ataxia, dementia
7
Q
Hurler’s
A
alpha-L-iduronidase enzyme, YES corneal clouding, mental retardation
8
Q
Hunter’s
A
Iduronate sulfatase enzyme, mild Hurler’s, NO corneal clouding, aggressive behavior
9
Q
Scheie
A
mild Hurler’s, YES corneal clouding
