Glycogen Storage Diseases Flashcards
1
Q
Define McArdle
A
Missing muscle glycogen phosphorylase
2
Q
Define Pompe
A
Missing glycogen phosphoylase
3
Q
Define Anderson
A
Missing branching enzyme
4
Q
Define von Gierke
A
Missing glucose 6 phosphatase
5
Q
Define Hers
A
Missing hepatic glycogen phosphorylase
6
Q
Define Cori
A
Missing debranching enzyme
7
Q
Symptoms of McArdle
A
High glycogen in muscles; weak muscles; myoglobinuria
8
Q
Symptoms of Pompe
A
Cardiomegaly; death before 2
9
Q
Symptoms of Anderson
A
cirrhosis, infantile hypotonia, death before 2, needs liver transplant
10
Q
Symptoms of von Gierke
A
Hypoglycemia, hepatomegaly, hyperlipidemia, lactic acidosis
11
Q
Symptoms of Hers
A
High glycogen in liver; heptaomegaly, hypoglycemia
12
Q
Symptoms of Cori
A
hypoglycemia
