Glycogen storage diseases

Question 1

which enzyme is deficient in von gierke?

Answer 1

glucose-6-phosphatase

Question 2

which enzyme is deficient in pompe disease?

Answer 2

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

Question 3

which enzyme is deficient in cori disease?

Answer 3

a-1,6-glucosidase (debranching enzyme)

Question 4

which enzyme is deficient in mcardle disease?

Answer 4

myophosphorylase

Question 5

what is the treatment for mcardle disease?

Answer 5

vitamin B6 (cofactor)

Question 6

what is the inheritance of all of the glycogen storage disease?

Answer 6

AR

Question 7

deficiency: lysosomal a-1,4-glucosidase (acid maltase)

Answer 7

pompe

Question 8

deficiency: myophosphorylase

Answer 8

mcardle

Question 9

deficiency: glucose-6-phosphatase

Answer 9

von gierke

Question 10

deficiency: a-1,6-glucosidase (debranching enzyme)

Answer 10

cori

Question 11

• mild fasting hypoglycemia
• mild increased glycogen in liver
• mild increased TGs
• mild increased uric acid
• mild hepatomegaly
• NORMAL lactate

which enzyme is deficient?

Answer 11

• cori

- deficiency: a-1,6-glucosidase (debranching enzyme)

Question 12

• severe fasting hypoglycemia
• very increased glycogen in liver
• increased TGs
• increased uric acid
• hepatomegaly
• elevated blood lactate

which enzyme is deficient?

Answer 12

• von gierke

- G-6-phosphatase

Question 13

• cardiomegaly
• hypertrophic cardiomyopathy
• exercise intolerance
• systemic findings
• early death

which enzyme is deficient?

Answer 13

• pompe

- deficiency: lysosomal a-1,4-glucosidase (acid maltase)

Question 14

• increased glycogen in muscle
• painful muscle cramps
• myoglobinuria
• arrhythmia from electrolyte abnormalities

which enzyme is deficient?

Answer 14

• mcardle

- myophosphorylase

Question 15

what is the treatment of von gierke disease?

Answer 15

• frequent oral glucose / cornstarch

- avoidance of fructose and galactose