Hypoglycaemia due to inherited metabolic disease — formative SAQs

SAQ 1 (10 marks)

A 14-month-old boy is brought to the emergency department after being found unresponsive in his cot in the morning. He had a viral illness with poor oral intake for 36 hours. On examination he is seizing, with a bedside glucose of 1.1 mmol/L. He has mild hepatomegaly. The team draws bloods before treating: insulin detectable, beta-hydroxybutyrate 0.3 mmol/L, free fatty acids markedly elevated, lactate normal, ammonia normal. ^{[1] [6]}

a) Explain why this biochemical profile — hypoglycaemia with inappropriately low ketones but high free fatty acids — points to a fatty-acid oxidation defect, and name the most likely diagnosis. (3 marks) ^{[6] [1]}

b) Describe the immediate resuscitation you deliver, and justify why a critical sample was drawn before treatment. (3 marks) ^[1]

c) Outline the long-term management plan, including the emergency sick-day advice you give the family. (2 marks) ^[6]

d) Explain the significance of this presentation for the family, including recurrence risk and the role of newborn screening. (2 marks) ^{[6] [1]}