Glycogen storage diseases

Question 1

von gierke’s deficient enzyme

Answer 1

Glucose 6 phosphatase

Question 2

inheritance of glycogen storage disease

Answer 2

all autosomal recessive

Question 3

deficient enzyme in pompe’s disease

Answer 3

lysosomal a-1,4-glucosidase

acid maltase

Question 4

deficient enzyme in cori’s disease

Answer 4

debranching enzyme

alpha 1-6 glucosidase

Question 5

deficient enzyme in mcArdle’s disease

Answer 5

skeletal muscle glycogen phosphorylase

Question 6

type I glycogen storage

Answer 6

von gierke’s

Question 7

type II glycogen storage

Answer 7

Pompe’s

Question 8

Type III glycogen storage

Answer 8

Cori’s

Question 9

Type V glycogen storage

Answer 9

McArdle’s

Question 10

Von gierke presentation

Answer 10

severe hypoglycemia
increased glycogen in liver
increased blood lactate
hepatomegaly

Question 11

Pompe presentation

Answer 11

cardiomegaly, hepatomegaly, hypotonic

normal glucose levels

Question 12

Cori’s presentation

Answer 12

Like von gierke, but normal blood lactate

• -hypoglycemia
• -stunted growth
• -hepatomegaly

Question 13

McArdle’s presentation

Answer 13

Myoglobinuria and cramping with exercise

Increased muscle glycogen in muscles