Glycogen Storage Disease

Question 1

I (Von Gierke Disease)

Answer 1

Enzyme: Glucose 6-phosphatase (deficient enzyme)

Organ: Liver & Kidney

Glycogen: Increased Normal Structure

Clinical Features: Enlarged liver, failure to thrive, severe hypoglycemia, hyperuricemia, gouty arthritis, hyperlipidemia, mental retardation, lactic acidosis

Question 2

II (Pompe Disease)

Answer 2

Enzyme: alpha glucosidase

Organ: All organs

Glycogen: Massive increase normal structure

Clinical Features: Cardiorespiratory failure. Death usually before 2

Question 3

III ( Cori Disease)

Answer 3

Enzyme: Glycogen debranching Enzyme

Organ: Muscle and Liver

Glycogen: Increased short outer branches

Clinical Features: Like I but milder

Question 4

IV (Anderson Disease)

Answer 4

Enzyme: Glycogen branching enzyme

Organ: Liver & Spleen

Glycogen: Normal amount, long branches

Clinical Features:Progressive cirrhosis of liver. Liver failure.

Question 5

V (McArdle Disease)

Answer 5

Enzyme: phosphorylase

Organ: MUSCLE (McHurdles)

Glycogen: Normal structure moderate amount

Clinical Features: Limited ability to perform exercise, painful muscle cramps

Question 6

VI (Hers disease)

Answer 6

Enzyme: Phosphorylase

Organ:Liver

Glycogen:Increased amounts

Clinical Features:Like 1

Question 7

VII (Tarui Disease)

Answer 7

Enzyme: PFK-1

Organ: Muscle (Taurus has muscle)

Glycogen: Increased amount

Clinical Features: Live V

Question 8

VIII

Answer 8

Enzyme: phosphorylase b kinase

Organ: liver

Glycogen: increased amount, normal structure

Clinical Features:mild liver enlargment, mild hyperglycemia.