What are the key clinical features that may suggest an inborn error of metabolism in a paediatric patient?

Key clinical features suggesting an inborn error of metabolism (IEM) in a paediatric patient include:

• Acute or recurrent episodes of metabolic decompensation such as vomiting, lethargy, hypotonia, seizures, or coma, often triggered by fasting, illness, or stress.
• Developmental delay or regression where a child loses previously acquired skills or fails to meet milestones appropriately.
• Neurological symptoms including unexplained seizures, movement disorders, or abnormal muscle tone.
• Failure to thrive or poor growth without an obvious cause.
• Unusual odours in breath, urine, or sweat, which may be distinctive for certain metabolic disorders.
• Hepatomegaly or liver dysfunction presenting with jaundice or abnormal liver function tests.
• Multi-system involvement such as cardiomyopathy, renal tubular acidosis, or hematological abnormalities.
• Family history of consanguinity, unexplained infant deaths, or similar symptoms in siblings.

These features should prompt consideration of IEM and urgent metabolic investigations and specialist referral ¹ (Ibrahim et al., 2014; Sharma and Prasad, 2017). Early recognition is critical as some IEMs are treatable and early intervention can prevent irreversible damage.