Glycogen Storage Disease Extra

Question 1

What is hypoglycaemia?

Answer 1

Blood glucose below < 3 mmol/L

Question 2

What are the symptoms of hypoglycaemia?

Answer 2

• CNS function impairment
• Confusion
• Slurred speech
• Staggering
• Loss of consciousness
• Death

Question 3

What is hyperglycaemia?

Answer 3

Chronic blood glucose level > 7 mmol/L

Question 4

What can hyperglycaemia lead to?

Answer 4

• Nerve damage
• Vascular damage
• Kidney damage
• Retinal damage

Question 5

What is metabolic acidosis?

Answer 5

An abnormal primary process/condition leading to an increase in fixed acids in the blood

Question 6

What are the possible investigations for hyper/hypoglycaemia?

Answer 6

• Measure blood levels and metabolised
• Measure blood levels of metabolites following glucose ingestion
• Measure hormone levels during fasting
• Measure enzyme activity in RBC and liver