Glycogen Storage Diseases

Question 1

Name the enzyme deficiency and disease.

Glycogen: normal structure; increased amount

Tissues: liver + kidney loaded with glycogen

Sx: hypoglycemia

Answer 1

glucose-6-phosphatase (glucose cannot leave liver)

von Gierke’s disease

Question 2

Name the enzyme deficiency and disease.

Glycogen: normal structure; REALLY increased amount

Tissues: accumulation of glycogen in lysosomes in all organs;

Sx: cardiomyopathy

Answer 2

lysosomal alpha-1, 4-glucosidase

Pompe’s disease

Question 3

Name the enzyme deficiency and disease.

Glycogen: outer chains missing or very short; increased amount

Tissues: accumulation of branched polysaccharide in liver and muscle

Sx:

Answer 3

amylo-1,6-glucosidase (debranching enzyme)

Cori’s disease

(like von Gierke’s but milder)

Question 4

Name the enzyme deficiency and disease.

Glycogen: very long, unbranched chains, normal amount

Tissues: liver

Sx: liver failure causes death in the first year of life

Answer 4

branching enzyme

Anderson’s disease

Question 5

Name the enzyme deficiency and disease.

Glycogen: normal structure; increased amount

Tissues: muscle

Sx: muscle has abnormally high glycogen content (2.5-4.1%); diminished exercise tolerance; responsive to glucose administration

Answer 5

glycogen phosphorylase (liver)

McArdle’s Disease

Question 6

Name the enzyme deficiency and disease.

Glycogen: normal structure, increased amount

Tissues: increased liver glycogen

Sx: hypoglycemia

Answer 6

glycogen phosphoylase (muscle)

Hers’ disease

Question 7

Name the enzyme deficiency and disease.

Glycogen: normal structure, increased amount

Tissues: muscle

Sx: hemolytic anemia ; unresponsive to glucose administration

Answer 7

phosphofructokinase

Tarui’s disease