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Glycogen Stor Diseas

WVSOM -- First Aid -- Glycogen Storage Diseases

QuestionAnswer
Severe fasting hypoglycemia. Increased glycogen in liver. Increased blood lactate. Hepatomegally Von Gierke's Disease
Type I Glycogen Storage Disease Von Gierkes
Type II Glycogen Storage Disease Pompe's Disease
Type III Glycogen Storage Disease Cori's Disease
Type V Glycogen Storage Disease McArdle's Disease
Cardiomegaly and sytemic findings leading to early death Pompe's Disease
RESTRICTIVE CARDIOMYOPATHY POMPE!!!!!
Milder form of type I with normal blodo lactate levels Cori's Disease
Increased glycogen in muscle, but cannot break it down. Painful muscle cramps, myoglobinuria with strenuous exercise McArdle's (McARNOLDS)
Glucose-6-Phosphatase deficiency Von-Gierke's Disease
Lysosomal alpha-1,4-glucosidase deficiency Pompe's Disease
Debranching enzyme (alpha-1,5-glucosidase) deficiency Cori's Disease
Skeletal muscle glycogen phophorylase deficiency McArdle's Disease
Created by: tjamrose
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