glycogen storage diseases

Question 1

I Von Gierke

Answer 1

def: glucose-6-phosphate

• severe fasting hypoglycemia
• inc glycogen in liver (HM)
• inc uric acid (gout)
• lactic acidosis
• hyperlipidemia, hyperuricemia

Question 2

II Pompe

Answer 2

def: lysosomal acid maltase

-cardiomegaly
-exercise intolerance
-glycogen accumulates in lysosomes
NORMAL glucose

Question 3

III Cori

Answer 3

def: debranching enxyme (a1,6 glucosidase)

milder von gierke

• HM
• ketotic hypoglycemia
• short weird glycogens
• hypotonia, weakness

Question 4

IV McArdle

Answer 4

def: skeletal muscle glycogen phosphorylase

• inc glycogen in muscle, but muscle can’t break it down
• cramps
• myoglobinuria
• arrythmia –> electrolyte abnl
• “second wind phenomenon” –>blood flow

Think: M for McArdle and Muscle