Glycogen storage diseases Flashcards Preview

A - Board Reveiew Misc > Glycogen storage diseases > Flashcards

Flashcards in Glycogen storage diseases Deck (4)
1

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.

2

Pompe Disease

Autosomal recessive lack of lysosomal alpha 1,4 glucsidase.
Results in cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance etce.

"Pompe's trashes the heart"

3

Cori disease

Missing debranching enzyme for glycogen (alpha-1,6-glucosidase.

Mild form of von gierkes.

4

McArdle Disease

Deficient skeletal muscle glycogen phosphorylase.
Increased glycogen in muscle and muscle cannot break it down leading to paingul cramps and myoglobinuria.

Blood glucose levels are usually fine.

Decks in A - Board Reveiew Misc Class (64):