Glycogen Storage Disease Extra Flashcards

1
Q

What is hypoglycaemia?

A

Blood glucose below < 3 mmol/L

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2
Q

What are the symptoms of hypoglycaemia?

A
  • CNS function impairment
  • Confusion
  • Slurred speech
  • Staggering
  • Loss of consciousness
  • Death
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3
Q

What is hyperglycaemia?

A

Chronic blood glucose level > 7 mmol/L

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4
Q

What can hyperglycaemia lead to?

A
  • Nerve damage
  • Vascular damage
  • Kidney damage
  • Retinal damage
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5
Q

What is metabolic acidosis?

A

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

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6
Q

What are the possible investigations for hyper/hypoglycaemia?

A
  • 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
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