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Glycogen Storage Dzs
Glycogen Storage Diseases
Description | Glycogen 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) |