Glycogen Storage Diseases Flashcards
Describe Glycogen Storage diseases
12 types; all resulting in abnormal glycogen metabolism and an accumulation of glycogen within cells.
mneumonic for glycogen storage diseases
Very Poor Carbohydrate Metabolism
Von Gierke Disease (TYPE 1) clinical findings
1) Severe fasting hypoglycemia 2) increased glycogen in liver 3) increased blood lactate 4) hepatomegaly
What enzyme is deficient in Von Gierke Disease (Type 1)
Glucose-6-phosphatase
What is the inheritance of Von Gierke Disease?
Autosomal Recessive
What is the treatment of Von Gierke Disease?
Frequent oral glucose/cornstarch; avoidance of fructose and galactose
What are the clinical findings of Pompe Disease (Type II)
Cardiomyopathy and systemic findings leading to early death
What enzyme is deficient in Pompe Disease (Type II)
Lysosomal alpha 1,4 glucosidase (acid maltase)
What is the inheritance of Pompe Disease (Type II)
Autosomal Recessive
What (3) organs does Pompe affect?
1) heart, liver, muscle
What are the clinical findings in Cori disease (Type III)
Milder form of type I with normal blood lactate levels
What enzyme is deficient in Cori disease (type III)
debranching enzyme (alpha-1,6-glucosidase)
What is the inheritance of Cori disease?
Autosomal Recessive
Is gluconeogensis intact in Cori disease?
Yes
What are the findings in McArdle disease?
increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria (red urine) with strenuous exercise, and arrhythmia from electrolyte abnormalities
