Glycogen storage disease

Question 1

What are the two types of tissue which are affected by glycogen disease?

Answer 1

Liver and muscle

Question 2

What is GSD type I?

Answer 2

Deficiency in Glucose-6-phosphate which is used in the formation of glucose.

Question 3

Where is G6P located?

Answer 3

Liver, Intestine and Kidney

Question 4

Summary of glycogen breakdown.

Answer 4

Glycogen broken down by glycogen phosphorylase to produce glycogen n-1 and glucose-1-phosphate

Question 5

Summary of Gluconeogenisis.

Answer 5

Pyruvate turned into Fructose-6-phosphate by Gluconeogenisis. F6P G6P, G6pase and H2O then produce glucose and Pi

Question 6

What are the different types of GSD type I defects?

Answer 6

Ia - defect catalytic subunit
Ib - G6P transporter
Ic - Inorganic phosphate transporter
IaSP - stabilising protein

Question 7

What are the symptoms of GSD?

Answer 7

• Protruding abdomen - Hepatomegaly due to enlarged liver because of increase glycogen deposition.
• Fasting induced hypoglycaemia
• Growth failure

Question 8

What is the cause of fasting hypoglycaemia?

Answer 8

Due to a blockage of glycogenolysis and gluconeogenisis

Question 9

What are the symptoms of Hypoglycaemia?

Answer 9

Autonomic - sweating, hunger, tremor

Neuroglycopenia - coma, seizure, fatigue, personality change

Question 10

Treatment for GSD Type 1

Answer 10

Dietary - Frequent meals, nocturnal enteral feeding
Liver transplantation - or taking liver cells of donor and transplanting into 2/3 recipients.
kidney transplant - if renal failure occurs