Flashcards in Glycogen storage Dz Deck (10):
Very Poor Carbohydrate Metabolism Mneumonic
Von Gierke disease (type I), Pompe disease (type II), Cori disease (type III), McArdle disease (type V);
What is another name for α-1,6-glucosidase?
De branching enzyme
What is ALT?
Alanine transaminase-donates a nitrogen group from alanine to a-ketoglutarate forming pyruvate and glutamate. Increased serum ALT indicates liver damage.
What is AST
Aspartate transaminase-donates a nitrogen group from aspartate to a-ketoglutarate forming oxaloacetate
What is another name for lysosomal acid α-1,4-glucosidase?
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)
What is the inheritance pattern of types I, II, III, and V glycogen storage diseases?
What stain is best used in identifying glycogen accumulated in cells?
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)