Glycogen storage diseases Flashcards
Provide the deficient enzyme and major Sx of each glycogen storage disease.
1
Q
Type I (Von Gierke’s)
A
Glucose-6-phosphatase; severe fasting hypoglycemia, hepatomegaly, high serum lactate
2
Q
Type II (Pompe’s)
A
lysosomal α-1,4 glucosidase; Cardiomegaly, early death
3
Q
Type III (Cori’s)
A
debranching enzyme; like type I, but milder
4
Q
Type IV (Andersen’s)
A
branching enzyme; infantile hypotonia, cirrhosis, and death by age 2
5
Q
Type V (McArdle’s)
A
muscle glycogen phosphorylase; muscle cramps, myoglobinuria w/ exercise
6
Q
Type VI (Hers’)
A
hepatic glycogen phosphorylase; mild fasting hypoglycemia, hepatomegaly
