Glycogen Storage Diseases Flashcards Preview

First Aid Rapid Review KAM > Glycogen Storage Diseases > Flashcards

Flashcards in Glycogen Storage Diseases Deck (10):
1

Von Gierke disease findings

Severe fasting hypoglycemia with super increased glycogen in the liver
Increased blood lactate
Increased triglycerides
Increased uric acid

2

Von gierke disease deficient enzyme

Glucose-6-phosphatase

3

Von Gierke disease treatment

Frequent glucose and cornstarch, avoid fructose and galactose

4

Pompe disease findings

Cardiomegaly
Hypertrophic cardiomyopathy
Exercise intolerance
Systemic findings lead to early death

5

Pompe disease deficient enzyme

Lysosomal alpha 1-4 glucosidase

6

Cori disease findings

Mild form of Von Gierke's
Normal blood lactate levels

7

Cori disease deficient enzyme

Debranching enzyme (alpha 1,6 glucosidase)

8

McArdle disease findings

Increased glycogen in muscle
Painful cramps and myoglobinuria after exercise
Arrhythmia after electrolyte imbalances

9

McArdle Disease deficient enzyme

Skeletal muscle glycogen phosphorylase

10

McArdle Disease treatment

Vitamin B6 (pyridoxine)