Metabolic Disorders Flashcards
1
Q
Alkaptnonuria
A
Homogentisic acid Oxidase
2
Q
Anderson Disease
A
Branching enzyme
3
Q
Canavan Disease
A
Aspartoacylase
4
Q
Cori or Forbes Disease
A
Debrancher deficiency
amylo 1,6 glucosidase
5
Q
Fabry Disease
A
α-Galactosidase
6
Q
Fanconi Bickel syndrome
A
GLUT-2
7
Q
Farber Disease
A
Ceramidase
8
Q
Galactosemia
A
Galactose 1Phosphate Uridyl Transferase (GALT)
Epimerase
Galactokinase
9
Q
Gaucher Disease
A
Glucocerebrosidase
10
Q
GM1 gangliosidosis
A
β-galactosidase
11
Q
Hartnup Disorder
A
Def Transport of Neutral Aminoacids
12
Q
Hawkinsinuria
A
4-hydroxy phenyl pyruvate dehydrogenase (4-HPPD)
13
Q
Heriditary Fructose intolerance
A
Aldolase B
14
Q
Hers Disease
A
Liver Phosphorylase
15
Q
Homocystinuria
A
Cystathionine β synthase
