Flashcards in Glycogen storage diseases Deck (4)
Von Gierke disease type I
Autosomal recessive Deficient Glucose-6-phosphatase
Severe fasting hypoglycemia
Increased liver glycogen levels, increased blood lactate, increased triglycerides, increased uric acid.
Autosomal recessive lack of lysosomal alpha 1,4 glucsidase.
Results in cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance etce.
"Pompe's trashes the heart"
Missing debranching enzyme for glycogen (alpha-1,6-glucosidase.
Mild form of von gierkes.