Bookmark and Share

Front Back
Severe fasting hypoglycemia, very increased glycogen in liver, increased blood lactate, hepatomegaly, and increased uric acid
Von Gierke's disease (type I)
Deficient Enzyme: Glucose-6-phosphatase
Cardiomegaly and systemic findings leading to early death
Pompe's disease (type II)
Deficient enzyme: Lysosomal a-1,4-glucosidase (acid maltase)
Milder form of type I with normal blood lactate levels
Cori's disease (type III)
Deficient enzyme: Debranching enzyme (a-1,6-glucosidase)
Increase glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise
McArdle's disease (type V)
Deficient enzyme: Skeletal muscle glycogen phosphorylase
x of y cards