Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.

Summary

This systematic review examines inborn errors of metabolism presenting with seizures in the neonatal period, focusing on conditions not detected by expanded newborn screening with tandem mass spectrometry, such as molybdenum cofactor deficiency, hypophosphatasia and GLUT1 deficiency. It outlines clinical and biochemical features and a diagnostic work-up to help neonatologists suspect an IEM, particularly when seizures are resistant to standard antiseizure drugs or accompanied by metabolic decompensation. The authors report worse neurological outcomes in infants treated only with conventional antiseizure medication compared with those given disease-specific treatment such as ketogenic diet or vitamin B6. They emphasise early diagnosis and targeted therapy rather than waiting for drug resistance.

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