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Glycogen Storage Def
MGM Exam 2
Disease | Description |
---|---|
Von-Gierke's Disease | enzyme: glucose-6-Phosphatase symptoms: hepatomegaly, hypoglycemia, lactic acidosis, ketosis (GSD I) |
Pompe's Disease | enzyme: alpha-glucosidase symptoms: enlarged heart, cardiorespiratory failure most rapidly fatal GSD (GSD II) |
Cori's disease | enzyme: glycogen debranching enzyme (hydrolase ability) like mild GSD I (GSD III) |
Andersen's disease | enzyme: glycogen branching enzyme symptoms: cirrhosis, liver failure no branches in glycogen (GSD IV) |
McArdle's disease | enzyme: muscle glycogen phosphorylase symptoms: muscle cramping upon exercise build-up of glycogen in muscle (GSD V) |
Hers' disease | enzyme: liver glycogen phosphorylase symptoms: enlarged liver, hypoglycemia, acidosis (GSD VIa) |
GSD VIb | enzyme: liver glycogen phosphorylase kinase symptoms: enlarged liver, hypoglycemia, acidosis X-LINKED!!!! |
GSD VII | enzyme: phosphofrucokinase symptoms: muscle cramps on exercise |