Glycogen Storage Disease FA 2015 pg 110

Question 1

Von Gierk Disease

Enzyme?
Symptoms?
Inheritance?
Treatment?

Answer 1

glucose 6- phosphatase

Lactic acidosis, hyperlipidemia (high triglycerides), hyperuricemia (gout)

Increased glycogen in liver (hepatomegaly), severe fasting hypoglycemia
Hepatosplenomegally, enlarged kidneys

Autosomal Recessive

Tx: frequent oral glucose/cornstarch; avoidance of fructose and galactose

Question 2

Pompe Disease

Enzyme?
Inheritance?

Answer 2

Lysosomal alpha-1,4 glucosidase

Autosomal recessive

Question 3

Two types of Pompe Disease and their clinical presentations?

Answer 3

Infantile:

• severe muscle weakness
• Cardiomegaly
• Heart failure
• Shortened life span

Adult:

• no cardiac involvement
• Gradual onset of skeletal muscle weakness
• Diaphragm weakness –> Respiratory failure

Question 4

Cori Disease

Enzyme?
Clinical?
Inheritance?

Answer 4

alpha-1,6 - glucosidase deficiency
(aka debranching enzyme)

Hepatomegaly, hypoglycemia (less severe than Von Gierk), hyperlipidemia

• Normal kidneys, lactate, and uric acid levels
• Abnormal glycogen with very short outer chains

Autosomal recessive

Question 5

McArdle disease

enzyme?
Clinical?
Why clinical presentation occurs?
Inheritance?
Tx

Answer 5

Skeletal muscle glycogen phosphorylase
- cannot break alpha 1,4 glycosidic bonds

Painful muscle cramps, myoglobinuria with strenuous exercise (red urine) and arrhythmia from electrolyte abnormalities

High amount of glycogen in muscle increases osmotic pressure and draw in H2O from cells.
Muscle swells and lyses
= Rhabdomyolysis

Autosomal recessive

Tx: vitamin B6 (cofactor

Question 6

Who is deficient in Glucose 6-phosphatase

Answer 6

Von Gierke disease

Question 7

Glycogen phosphorylase deficiency

Answer 7

McArdle Disease

Question 8

Lactic acidosis, hyperlipidemia, hyperuricemia

Answer 8

Von Gierke disease

Question 9

alpha 1,6 glucosidase deficiency

Answer 9

Cori disease

Question 10

Alpha 1,4 glucosidase deficiency

Answer 10

Pompe Disease

Question 11

Cardiomegaly

Answer 11

Pompe disease (infantile)

Question 12

Diaphragm weakness leading to respiratory failure

Answer 12

Pompe disease (adult)

Question 13

Increased glycogen in liver, severe fasting hypoglycemia

Answer 13

Von Gierke disease

Question 14

Hepatomegaly, hypoglycemia

Normal kidneys, lactate, and uric acid

Answer 14

Cori disease

- alpha 1,6 glucosidase deficiency

Question 15

Painful muscle cramps, myoglobinuria with strenuous exercise

Answer 15

McArdle disease

Question 16

Severe hepatosplenomegaly, enlarged kidneys

Answer 16

Von Gierke disease