September 10, 2025Clinical Case ReportsOpen Access

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency

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Refractory seizures persisted in an 11-day-old neonate despite treatment, leading to metabolic disturbances.
Genetic analysis confirmed a homozygous pathogenic variant in the ALDH7A1 gene, linking it to pyridoxine-dependent epilepsy.
Intensive management failed to prevent deterioration, ultimately resulting in cardiorespiratory arrest and death.
Early recognition of pyridoxine-dependent epilepsy is crucial for better outcomes in vulnerable populations.

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Case report reveals refractory seizures and metabolic disturbances in a neonate with ALDH7A1 deficiency, indicating urgent need for treatment.

Saeedi et al. (2025) studied this question.

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Case report reveals refractory seizures and metabolic disturbances in a neonate with ALDH7A1 deficiency, indicating urgent need for treatment.