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Flashcards in glycogen storage disorders Deck (12):
1

von gierke enzyme

glucose 6 phosphatase

2

pompe enzyme

lysosomal alpha 1,4 glucosidase (acid maltase)

3

cori diseae enzyme

debranching enzyme

4

mcardel disease enzyme

skeletal muscle glycogen phosphorylase

5

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

von gierke
glucose 6 phosphatase

6

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

pompe
lysosomal alpha 1,4 glucosidase (acid maltase)

7

milder form of von gierke with normal blood lactate levels

debranching enzyme
alpha 1 6 glucosidase

8

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

mcardel

9

inheritance of all glycogen storage diseases

autosomal recessive

10

rx von gierke

frequent oral glucose/cornstarch, avoidance of fructose and galactose

11

rx. mcardel

b6 vitamin (cofactor)

12

which one is a lysosomal glycogen disorder

pompe