Glycogen storage diseases

Question 1

deficient in Glucose-6-phosphatase

Answer 1

Von Gierke’s

Question 2

deficient in Lyosomal alpha-1,4-glucosidase (aka acid maltase)

Answer 2

Pompe’s disease

Question 3

deficient in alpha-1,6-glucosidase (aka debranching enzyme)

Answer 3

Cori’s disease

Question 4

deficient in skeletal muscle glycogen phosphorylase

Answer 4

McArdle’s

Question 5

These are all what type of inheritance?

Answer 5

Autosomal Recessive

Question 6

severe fasting hypoglycemia, ^^glycogen in the liver, ^ blood lactate, hepatomegaly

Answer 6

Von Gierke’s

Question 7

Cardiomegaly

Answer 7

Pompe’s

mnemonic: “Pompe’s trashes the pump”

Question 8

^glycogen in liver, normal blood lactate

Answer 8

Cori’s

described as “mild von gierkes”

Question 9

^glycogen in muscle, but muscle can not break it down, so get painful muscle cramps and myoglobinuria with exercise

Answer 9

McArdle’s

Question 10

what is this (similar to McArdle’s): it has muscle pain and stiffness with exercising and fasting, then rhabdomyolysis, but is not a glycogen storage disorder?

Answer 10

Carnitine Palmitoyltransferase Deficiency

cant bring long chain fatty acids from cytoplasm to mitochondria