Glycogen storage Dz

Question 1

Very Poor Carbohydrate Metabolism Mneumonic

Answer 1

Von Gierke disease (type I), Pompe disease (type II), Cori disease (type III), McArdle disease (type V);

Question 2

What is another name for α-1,6-glucosidase?

Answer 2

De branching enzyme

Question 3

What is ALT?

Answer 3

Alanine transaminase-donates a nitrogen group from alanine to a-ketoglutarate forming pyruvate and glutamate. Increased serum ALT indicates liver damage.

Question 4

What is AST

Answer 4

Aspartate transaminase-donates a nitrogen group from aspartate to a-ketoglutarate forming oxaloacetate

Question 5

What is another name for lysosomal acid α-1,4-glucosidase?

Answer 5

Acid maltase

Question 6

A boy has painful muscle cramps and red urine after exercise. What genetic defect is likely to blame?

Answer 6

McArdle disease (type V), which is due to a deficiency of SKELETAL glycogen phosphorylase (Myophosphorylase)

Question 7

What is the inheritance pattern of types I, II, III, and V glycogen storage diseases?

Answer 7

Aut. Recessive

Question 8

What stain is best used in identifying glycogen accumulated in cells?

Answer 8

PAS

Periodic acid-Schiff

Question 9

A man has severe fasting hypoglycemia, gout, renomegaly, and hepatomegaly. He has a glycogen storage disease. What enzyme does he lack?

Answer 9

Glucose-6-phosphatase (he has von Gierke disease)

Question 10

A pt w/von Gierke disease presents w/fasting hypoglycemia. What other changes might be seen in her blood work?

Answer 10

↑ blood lactate, ↑ triglycerides, and elevated uric acid levels