glycogen storage diseases

Question 1

von gierke type I

Answer 1

severe fasting hypoglycemia, increased glycogen in the liver, increased blood lactate, increased triglycerides, increased uric acid secretion, and hepatomegaly. neutropenia and clotting disorders

Question 2

enzyme def in von girke

Answer 2

glucose 6 phosphatase.

Question 3

von gierke inheritance and treatment

Answer 3

autosomal recessive, frequent glucose intake.

Question 4

cori disease

Answer 4

milder form of type I. normal lactate levels. defective debranching enzyme. (alpha-1,6-glucosidase)

Question 5

why is cori less dramatic than von grikes

Answer 5

because gluconeogenesis is still in tact. glucose can still make it into the blood. less hypoglycemia

Question 6

pompe

Answer 6

caardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, leads to early death. acid maltase def or lysosomal alpha 1,4 glucosidase. autosomal recessive. trashes the heart.

Question 7

mcardle

Answer 7

increased glycogen in muscle. painful muscle cramps. myoglobinuria. skeletal muscle glycogen phosphorylase. autosomal recessive. blood glucose typically unaffected.