Glycogen-storage Diseases

Question 0

McArdle disease

Answer 0

Defect in phosphorylase, affects muscle, get slightly more glycogen, get muscle cramps

Question 1

Von Gierke disease

Answer 1

Defective glucose-6-phosphatase, liver and kidney affected, more glycogen, get hypertrophy of liver, failure to thrive

Question 2

Anderson disease

Answer 2

Defect in branching enzyme, affects liver and spleen, get long branches in glycogen, get cirrhosis and liver failure