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Inborn errors of metabolism causing epilepsy

Shamima Rahman1, Emma J Footitt, Sophia Varadkar

  • 1Clinical and Molecular Genetics and Neurosciences Units, University College London Institute of Child Health, London and Metabolic and Neurosciences Units, Great Ormond Street Hospital for Children NHS Trust, London, UK. shamima.rahman@ucl.ac.uk

Developmental Medicine and Child Neurology
|September 25, 2012
PubMed

Insights

Seizures can signal inborn errors of metabolism (IEMs), especially in newborns. This review guides diagnosis and treatment for IEMs presenting with seizures, focusing on conditions with available therapies.

Area of Science:

  • Metabolic disorders
  • Neurology
  • Pediatrics

Background:

  • Seizures are a primary symptom in some inborn errors of metabolism (IEMs).
  • Other IEMs manifest with seizures after initial symptoms like reduced consciousness or developmental regression.
  • This review focuses on IEMs with available specific treatments.

Purpose of the Study:

  • To review inborn errors of metabolism (IEMs) that present with seizures.
  • To correlate age at presentation with common metabolic causes of seizures.
  • To guide diagnosis of IEMs with specific treatments.

Main Methods:

  • Literature review of IEMs presenting with seizures.
  • Analysis of clinical features, imaging, and biochemical investigations.
  • Focus on disorders with established therapeutic interventions.

Main Results:

  • Metabolic causes of seizures vary significantly with patient age.
  • Clinical history, examination, imaging, and initial biochemical tests offer diagnostic clues.
  • Specific diagnostic tests are crucial for identifying treatable IEMs.

Conclusions:

  • Early recognition of seizures as a symptom of IEM is critical.
  • A systematic approach integrating clinical and biochemical data aids diagnosis.
  • Prompt diagnosis enables timely initiation of specific treatments for better outcomes.

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