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Glycogen Storage Dzs

Glycogen Storage Diseases

DescriptionGlycogen Storage Disease
Glucose-6-phosphatase deficiency Von Gierke's (type 1)
Lysosomal acid maltase deficiency Pompe's (type 2)
Alpha-1,4-glucosidase deficiency Pompe's (type 2)
Debranching enzyme deficiency Cori's (type 3)
Alpha-1,6-glucosidase deficiency Cori's (type 3)
Skeletal muscle glycogen phosphorylase deficiency McArdle's (type 5)
Branching enzyme deficiency Andersen/amylopectinosis (type 4)
Alpha-1,4:alpha-1,4-transferase deficiency Andersen/amylopectinosis (type 4)
Hepatic glycogen phosphorylase deficiency Hers (type 6)
Hyperlipidemia, hyperuricemia, short stature, protruding abdomen, hepatomegaly, emaciated extremities Von Gierke's (type 1)
Severe fasting hypoglycemia, doll-like facies Von Gierke's (type 1)
Cardiomegaly Pompe's (type 2)
Glycogen with short outer branches; single glucose residue at outer branch Cori's (type 3)
Muscle cramps, myoglobinuria with strenuous exercise McArdle's (type 5)
Infantile hypotonia, cirrhosis, death by age 2; glycogen with very few branches Andersen/amylopectinosis (type 4)
Mild fasting hypoglycemia, hepatomegaly, cirrhosis Hers (type 6)
Milder form of Von Gierke's (type 1) with normal blood lactate levels Cori's (type 3)
Most common glycogen storage disease Von Gierke's (type 1)
Created by: kesselmb



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