Biochem Flashcards
1
Q
Acid Maltase Deff
-Pompe Disease
A
- acid maltase(alpha glucosidase)
- glycogen accumulation in lysosomal vesicles
- cardiomegaly, macroglossia, hypotonia
- MR
- hepatomegaly
2
Q
Type 5 Glycogen Storage disorder
A
- McCardle’s Disease
- muscle glycogen phosphorylase
- excercise intolerance
- litle to no rise in blood lactate level after excercise
- high level of glycogen in muscles
3
Q
Type 1 Glycogen storage disease
A
- Von Gierkes
- hepatomegaly
- lactic acidosis
- hyperuricemia/hyperlipidemia,
- increased glycogen storage(normal structure
- Glucose 6 phosphatase deff
4
Q
Galactokinase Deff
A
- catalyzes phosphorylation of galactose in presence of ATP
- CATARACTS.
