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Inborn error of metabolism — RACP Paediatrics MCQ

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HardNeonatalInborn error of metabolismRACP Paediatrics

A term neonate develops refractory seizures on day 3 of life. There is no history of birth asphyxia. Metabolic workup shows a severe metabolic acidosis with elevated ammonia and an abnormal amino acid profile. There is a peculiar odour to the urine. What is the most likely cause?

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Correct answer: A — Inborn error of metabolism

Seizures in a term neonate without birth asphyxia, with metabolic acidosis, hyperammonaemia, and an unusual urine odour, are suggestive of an inborn error of metabolism (e.g., maple syrup urine disease, organic acidaemia, urea cycle defect). Urgent metabolic workup including ammonia, lactate, amino acids, organic acids, and acylcarnitine profile is essential.

Reference: RCH Melbourne – 2023 – Neonatal Seizures CPG; RACP Paediatric Curriculum – Metabolic