glycogen storage disorders

Question 1

von gierke enzyme

Answer 1

glucose 6 phosphatase

Question 2

pompe enzyme

Answer 2

lysosomal alpha 1,4 glucosidase (acid maltase)

Question 3

cori diseae enzyme

Answer 3

debranching enzyme

Question 4

mcardel disease enzyme

Answer 4

skeletal muscle glycogen phosphorylase

Question 5

severe fasting hypoglycemia, increased glycogen in liver, high blood lactate, high triglycerides, high uric acid, hepatomegaly

Answer 5

von gierke

glucose 6 phosphatase

Question 6

cardiomegaly, hypertophic cardiomyopathy, exercise intolerance systemic findings leading to early death

Answer 6

pompe

lysosomal alpha 1,4 glucosidase (acid maltase)

Question 7

milder form of von gierke with normal blood lactate levels

Answer 7

debranching enzyme

alpha 1 6 glucosidase

Question 8

increased glycogen in muscle, but muscle cannot break it down, painful muscle cramps, myoglobinuria (red urine) with strenuous exercise, arrthymia from electrolyte abnormalities

Answer 8

mcardel

Question 9

inheritance of all glycogen storage diseases

Answer 9

autosomal recessive

Question 10

rx von gierke

Answer 10

frequent oral glucose/cornstarch, avoidance of fructose and galactose

Question 11

rx. mcardel

Answer 11

b6 vitamin (cofactor)

Question 12

which one is a lysosomal glycogen disorder

Answer 12

pompe