Glycogen Storage Diseases Flashcards
1
Q
Glucose -6-phosphatase deficiency
- severe fasting hypoglycemia
- buildup of glycogen in liver
- hepatomegaly
A
Von Gierke disease (1)
2
Q
- Lactic acidosis
- hyperlipidemia
- hyperuricemia
A
Von Gierke (1)
3
Q
alpha-1,4-glucosidase deficiency in lysosomes
- cardiomegaly
- hypertrophic cardiomyopathy
- exercise intolerance
A
Pompe disease (2)
4
Q
alpha-1,6-glucosidase deficiency
- Normal blood lactate levels
- intact gluconeogenesis
A
Cori disease (3)
5
Q
Cardiomegaly
- normal glucose levels
- glycogen accumulation in lysosomes
A
Pompe disease (2) infantile form
6
Q
Diaphragm weakness leading to respiratory failure
A
Pompe disease (2) adult form
7
Q
Glycogen phosphorylase deficiency
- Increased glycogen in muscle
- muscle cramps
- myoglobinuria
- arrhythmia from abnormal electrolytes
A
McArdle’s disease (5)
8
Q
- Increased glycogen in liver - hepatomegaly
- severe fasting hypoglycemia
- Steatosis
- Lactic acidosis
- Hyperuricemia, hyperlipidemia
A
Von Gierke (1)
9
Q
- Hepatomegaly
- Ketotic hypoglycemia
- hyperlipidemia (normal kidneys, lactate, uric acid)
- Abnormal glycogen with very short outer chains
A
Cori disease (3)
10
Q
- Painful muscle cramps - muscle phosphorylase deficiency
- Myoglobinuria with strenuous exercise
- No rise in blood lactate levels after exercise
A
McArdle’s disease (5)
11
Q
Severe hepatosplenomegaly, enlarged kidneys
A
Von Gierke (1)
