Glycogen Storage Diseases Flashcards
Von Gierke disease findings
Severe fasting hypoglycemia with super increased glycogen in the liver
Increased blood lactate
Increased triglycerides
Increased uric acid
Von gierke disease deficient enzyme
Glucose-6-phosphatase
Von Gierke disease treatment
Frequent glucose and cornstarch, avoid fructose and galactose
Pompe disease findings
Cardiomegaly
Hypertrophic cardiomyopathy
Exercise intolerance
Systemic findings lead to early death
Pompe disease deficient enzyme
Lysosomal alpha 1-4 glucosidase
Cori disease findings
Mild form of Von Gierke’s
Normal blood lactate levels
Cori disease deficient enzyme
Debranching enzyme (alpha 1,6 glucosidase)
McArdle disease findings
Increased glycogen in muscle
Painful cramps and myoglobinuria after exercise
Arrhythmia after electrolyte imbalances
McArdle Disease deficient enzyme
Skeletal muscle glycogen phosphorylase
McArdle Disease treatment
Vitamin B6 (pyridoxine)