Deficiencies Flashcards
1
Q
alpha-galactosidase A deficiency
A
Fabry’s Disease
2
Q
Glucocerebrosidase deficiency
A
Gaucher’s disease
3
Q
Sphingomyelinase deficiency
A
Niemann-Pick Disease
4
Q
Hexosaminidase A deficiency
A
Tay-Sachs Disease
5
Q
Galactocerebrosidase deficiency
A
Krabbe’s Disease
6
Q
Arylsulfatase A deficiency
A
Metachromatic Leukodystrophy
7
Q
alpha-L-iduronidase deficiency
A
Hurler’s Syndrome
8
Q
Iduronate Sulfatase deficiency
A
Hunter’s syndrome
9
Q
Aldolase B deficiency
A
Fructose Intolerance
10
Q
Fructokinase deficiency
A
Essential fructosuria
11
Q
galactose-1-phosphate uridyltransferase deficiency
A
Classic Galactosemia
12
Q
phenylalanine hydroxylase deficiency
A
Phenylketonuria
13
Q
Homogentisic acid oxidase deficiency
A
Alkaptonuria
14
Q
Tyrosinase deficiency or defective tyrosine transporters
A
Albinism
15
Q
Cystathionine synthase deficiency
A
Homocystinuria
