Biochem29

Question 1

What are the Glycogen Storage Diseases?

- All Autosomal Recessive

Answer 1

"Very Poor Carbohydrate Metabolism"
Von Gierke's (type I)
Pompe's (type II)
Cori's (type III)
McArdle's (type IV)

Question 2

Deficient Glucose-6-phosphatase.

Answer 2

Von Gierke’s (type I)

Question 3

Deficient Lysosomal a-1,4-glucosidase (acid maltase).

Answer 3

Pompe’s (type II)

Question 4

Deficient Debranching enzyme (a-1,6-glucosidase).

Answer 4

Cori’s (type III)

Question 5

Deficient Skeletal muscle glycogen phosphorylase.

Answer 5

McArdle’s (type IV)

Question 6

What disease has these findings:

• Severe fasting hypoglycemia
• INcreased glycogen in liver
• INcreased blood lactate
• Hepatomegaly

Answer 6

Von Gierke’s (type I)

Glucose-6-Phosphatase deficiency

Question 7

What are the findings in Pompe’s (type II)?

Answer 7

Cardiomegaly
Systemic findings leading to early Death

Lysosomal a-1,4-glucosidase (acid maltase)

Question 8

What are the findings in Cori’s (type III)

Answer 8

Milder form of Von Gierke’s
- fasting hypoglycemia, INcreased glycogen in liver
BUT NORMAL blood lactate

Question 9

What are the findings in McArdle’s (type IV)?

Answer 9

INcreased glycogen in muscle
- CANNOT break it down – Leads to:
Muscle cramps, myoglobinuria with strenuous exercise

“Mcardles’s = Muscle”

Question 10

What enzyme converts Glucose-6-Phosphate to Glucose + Pi?

Answer 10

Glucose-6-Phosphatase

*Von Gierke’s (type I)

Question 11

Enzyme deficient in Von Gierke’s (type I)

Answer 11

Glucose-6-phosphatase.

Question 12

Enzyme deficient in McArdle’s (type IV)

Answer 12

Skeletal muscle glycogen phosphorylase

Question 13

Enzyme deficient in Cori’s (type III)

Answer 13

Debranching enzyme (a-1,6-glucosidase).

Question 14

Enzyme deficient in Pompe’s (type II)

Answer 14

Lysosomal a-1,4-glucosidase (acid maltase).