Carb Disorder

Question 1

Includes

Answer 1

Galactosemia, Glycogen storage disease

Question 2

Glycogen storage disease affects liver and skeletal muscles (glycogen provides muscles substrate to generate ATP during activity)

Answer 2

Liver - hypoglycemia, hepatomegaly, ketosis

Muscle - weakness, muscle cramp, exercise intolerance, easy fatigue, rhabdo, myoglobinuria, cardiomyopathy, conduction problem

Question 3

Fatty acid vs glycogen during exercise

Answer 3

FA oxidation issue causes problem after prolonged exercise

Glycogen storage diseases cause problems after short duration of exercise

Question 4

How many types of GSD?

Answer 4

15 types total but 5 types account for 94%

Liver involvement - 1, 3, 4, 8
Muscle involvement - 2

Question 5

Galactosemia

Answer 5

Lactose is composed of glucose and galactose by lactase. Galactose then turns into glucose via the following 3 enzymes.

Three enzyme deficiencies (galt, galk, gale)

Autosomal recessive

Question 6

Galt

Answer 6

Complete def results in classical galactosemia.

Partial galt activity may be seen in Duarte variant