Neonatal Seizures: When to Consider and How to Investigate for an Inborn Error of Metabolism

Seizures occur more frequently in the neonatal period than in the remainder of childhood. Neonatal seizures can have different aetiologies. Inborn errors of metabolism are rare causes of seizures in the newborn. However, they are an important cause of intractable neonatal seizures, accounting for 30% of cases. Diagnosis is necessary for timely institution of appropriate treatment and is important in determining clinical outcome. As these are genetic conditions, it allows for appropriate genetic counselling. We describe the clinical presentation of neonatal seizures and the investigation findings in symptomatic neonatal seizures and epilepsy syndromes that arise in the neonatal period. The approach in diagnosis and investigation of an underlying inborn error of metabolism is described and inborn errors of metabolism that are important causes of neonatal seizures are reviewed.