Glycogen storage disease Flashcards
(6 cards)
1
Q
Glycogen storage disease Types
A
- Von Gierke Disease
- Pompe Disease
- Cori Disease
- McArdle Disease
2
Q
Von Gierke Disease [Type 1 GSD] clinical features
A
- Hypoglycemia, Hypoglycemic Seizures [Tremors] - High lactate - Hepatosplenomegaly
3
Q
- Pompe Disease [Type 2 GSD] clinical features
A
- Cardiomegaly or cardiomyopathy , High CPK - weak muscle
**2 C
Cardiomegaly
CPK =high
4
Q
high CPK DDx
A
-Duchenne muscular dystrophy
-dermatomyositis
-rhabdomyocitis
-neuroleptic malignant syndrome
-pompe disease
5
Q
Cori Disease [ Type 3 GSD ] - clinical features
A
Type 1 GSD with normal Lactate
6
Q
McArdle disease
A
- Muscle Cramps - Myoglobinuria [red urine]
