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Glycogen Storage Dz
Glycogen storage diseases
| Question | Answer |
|---|---|
| Von Gierke's Disease (Type I) | Deficient Enzyme: Glucose-6-phosphatase Findings: sever fasting hypoglycemia, big increase of glycogen in liver, increase blood lactate, hepatomegaly |
| Pompe's Disease (Type II) | Deficient Enzyme: Lysosomal alpha 1,4-glucosidase (AKA acid maltase) Findings: Cardiomegaly & systemic findings leading to early death |
| Cori's Disease (Type III) | Deficient Enzyme: Debranching enzyme (AKA alpha 1,6-glucosidase) Findings: Milder form of type I with normal blood lactate levels |
| McArdle's Disease (Type V) | Deficient Enzyme: Skeletal muscle glycogen phosphorylase (AKA myophosphorylase) Findings: Increased glycogen in muscle, but can't break it down --> painful muscle cramps, myoglobulinuria w/strenuous exercise |