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Flashcards in Glycogen storage Dz Deck (10):
1

Very Poor Carbohydrate Metabolism Mneumonic

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

2

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

De branching enzyme

3

What is ALT?

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

4

What is AST

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

5

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

Acid maltase

6

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

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

7

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

Aut. Recessive

8

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

PAS
Periodic acid-Schiff

9

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

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

10

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

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