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Glycogen Stor Diseas
WVSOM -- First Aid -- Glycogen Storage Diseases
Question | Answer |
---|---|
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 |