Term
| Von Gierke's disease (type I) Findings |
|
Definition
| Severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly |
|
|
Term
| Von Gierke's disease (type I) enzyme deficiency |
|
Definition
|
|
Term
| Pompe's disease (type II) findings |
|
Definition
| Cardiomegaly and systemic findings leading to early death |
|
|
Term
| Pompe's disease (type II) enzyme deficiency |
|
Definition
| Lysosomal a-1,4-glucosidase (acid maltase) |
|
|
Term
| Cori's disease (type I l l) findings |
|
Definition
| Milder form of type I with normal blood lactate levels |
|
|
Term
| Cori's disease (type I l l) enzyme deficiency |
|
Definition
Debranching enzyme
(a-1,6-glucosidase) |
|
|
Term
| McArdle's disease (type V) findings |
|
Definition
| Increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise |
|
|
Term
| McArdle's disease (type V) enzyme deficiency |
|
Definition
| Skeletal muscle glycogen phosphorylase |
|
|
