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Glycogen Storage Def

MGM Exam 2

DiseaseDescription
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
Created by: insanejuliafan
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