Glycogen storage diseases

Question 1

Von Gierke’s Disease

Answer 1

mutation in glucose-6-phosphase; hypoglycemia, hepatomegaly, acidosis, ketonuria

Question 2

Anderson’s Disease

Answer 2

mutation in glycogen branching enzyme; few branch points, cirrhosis, hepatic failure

Question 3

Cory’s Disease

Answer 3

mutation in glycogen debranching enzyme; shorter outer chains, hepatomegaly, moderage hypoglycemia, acidosis

Question 4

Pompe’s Disease

Answer 4

mutation in alpha glycosidase (in lysosome); most severe GSD, cardiomegaly, cardiac failure

Question 5

McArdles’s Disease

Answer 5

mutation in muscle glycogen phosphorylase; muscle cramps during exercise

Question 6

Her’s Disease

Answer 6

mutation in liver glycogen phsophorylase; hepatomegaly, moderate hypoglycemia, mild acidosis