Glycogen Storage Diseases

Question 1

Von Gierke

Answer 1

Glucose - 6 - phosphatase deficiency

Both gluconeogenesis and glycogenolysis are impaired –> hypoglycemia and inc lactic acid; hepatomegaly b/c stores of glycogen and inc uric acid

Question 2

Pompe Disease

Answer 2

Problem w/ lysosomal glycogen breakdown enzyme

Affects PumPs (AKA heart and muscle - cardiomyopathy, cardiomegaly, hypotonia, exercise intolerance)

Question 3

Cori Disease

Answer 3

Def in debranching enzyme (alpha -1,6 glucosidase)

Gluconeogenesis okay just glycogenolysis impaired

Milder than Von Gierke w/o lactic acid in blood (may see inc limit dextrin structures in blood)

Question 4

McArdle Disease

Answer 4

MUSCLE (inc glycogen in muscle b/c muscle glycogen phosphorylase problem)

Muscle cramps, red myoglobinuria, arrhythmia w/ strenuous exercise, second wind phenomenon in exercise w/ inc blood flow