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Glycogen Storage Dz

Glycogen storage diseases

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
Created by: drandyg83