Glycogen Storage Diseases

Question 0

Type 1

Answer 0

Lack of glucose-6-phosphotase

Hepatomegaly
Severe fasting hypoglycemia (gout will result from lactic acidemia)
Increases glycogen storage
No ketone bodies
Eat small, frequent meals

Question 1

Type 0

Answer 1

Lack of liver glycogen synthase

Fasting hypoglycemia
Feed hyperglycemia

Feed uncooked corn-starch

Question 2

Type 2

Answer 2

Lack of Lysosomal alpha-glucosidase activity (pompe disease)

Infantile form. Death w/in 2 years of birth

Question 3

Type 3

Answer 3

Lack of debranching enzyme

3a is both muscle and liver branching enzyme
Fasting hypoglycemia
Hepatomegaly
Glycogen w/ short, outer chains

Question 4

Type 4

Answer 4

Lack of branching enzyme (Anderson Disease)

Fatal
Solubility problems l with liver glycogen leading to liver cirrhosis

Question 5

Type 5

Answer 5

Lack of muscle phosphorylase (McCardle’s Disease)

Weakness/Cramping when exercising

Question 6

Type 6

Answer 6

Lack of Liver Glycogen Phosphorylase (Her disease)

Hepatomegaly
Fasting hypoglycemia
Mutation in phos a activation system

Question 7

Type 7

Answer 7

Lack of Muscle PFK-1 (Tarui Syndrome)

Exercise Intolerance
Similar to type 5 sym

Question 8

Type XI

Answer 8

GLUT 2 mutation (Fanconi-Bickel Syndrome)

Affects liver, kidneys, intestines and pancreas due to glycogen accumulation