Epileptic encephalopathies in inborn errors of metabolism in young children: focus on pyridoxine-dependent epilepsy
Abstract
Inborn errors of metabolism (IEM) represent one of the most clinically significant yet underdiagnosed causes of epileptic encephalopathies in young children. The team of the Department of Pediatric Neurology at the State Institution "Ukrainian Center of Maternity and Childhood of the NAMS of Ukraine" has been investigating this problem for over 25 years, which served as the foundation for the preparation of this publication. Particular attention is warranted by pyridoxine-dependent epilepsy (PDE) — a rare autosomal recessive disorder caused by pathogenic variants in the ALDH7A1 gene — as a classical example of a treatable metabolic epileptic encephalopathy.
Aim - to systematize current evidence on epileptic encephalopathies in inborn errors of metabolism in young children, and to elucidate the underlying pathogenetic mechanisms, clinical features, and approaches to diagnosis and treatment.
A systematic review of the scientific literature was conducted using PubMed/MEDLINE and OMIM databases, with a focus on publications from the past 10 years.
A clinical case of a 3-month-old girl with neonatal epilepsy refractory to standard therapy is presented. The diagnostic workup included prolonged video-EEG monitoring, brain MRI, biochemical investigations, and next-generation sequencing (NGS) using the CarrierSeq panel (420 genes). Epileptic seizures associated with IEM are characteristically resistant to standard antiseizure medications and may present as status epilepticus at…
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