Week 3: Glycogen Storage Disorders

Question 1

GSD 0 is a mutation in:

Answer 1

Glycogen Synthase

Question 2

Non-diabetic, variable exercise intolerance, muscle/cardiac hypertrophy after overnight fasting.

Answer 2

GSD 0

Question 3

GSD I (von Gierke’s disease) mutation in:

Answer 3

G-6-P phosphatase (only in liver)

Question 4

Fasting hypoglycemia, lactic acidosis, hepatomegaly, hyperuricemia/hyperlipidemia, can’t export glucose from liver.

Answer 4

GSD I

Question 5

GSD IIIa (Coris’ disease) mutation in:

Answer 5

Alpha-1,6-glucosidase (liver and muscle)

Question 6

Severe cardiac problems and severe muscle pain.

Answer 6

GSD IIIa

Question 7

GSD IIIb mutation in:

Answer 7

alpha-1,6-glucosidase (liver only)

Question 8

Some muscle pain, patient can outgrow

Answer 8

GSD IIIb

Question 9

GSD IV (Anderson disease) mutation in:

Answer 9

4:6 transferase glycogen synthesis problem

Question 10

Failure to thrive, hepatomegaly, liver failure, fatal

Answer 10

GSD IV

Question 11

GSD V (McArdle’s disease) mutation in:

Answer 11

muscle glycogen phosphorylase

Question 12

Late childhood onset, exercise intolerance, loss of cell shape/structure, myogloburinia, hyperammonia, increased creatine kinase in blood

Answer 12

GSD V