Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

Int J Mol Sci. 2017 Jul 2;18(7):1384. doi: 10.3390/ijms18071384.


Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. Since these disorders are related to inherited enzyme deficiencies with resulting effects on metabolic/biochemical pathways, the term "metabolic epilepsy" can be used to include these conditions. These epilepsies can present across the life span, and share features of refractoriness to anti-epileptic drugs, and are often associated with co-morbid developmental delay/regression, intellectual, and behavioral impairments. Some of these disorders are amenable to specific treatment interventions; hence timely and appropriate diagnosis is critical to improve outcomes. In this review, we discuss those disorders in which epilepsy is a dominant feature and present an approach to the clinical recognition, diagnosis, and management of these disorders, with a greater focus on primarily treatable conditions. Finally, we propose a tiered approach that will permit a clinician to systematically investigate, identify, and treat these rare disorders.

Keywords: biochemical testing; epilepsy; genetic; glucose transporter defect; inborn errors of metabolism; pyridoxine dependent epilepsy; seizures.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Biomarkers
  • Child
  • Child, Preschool
  • Disease Management
  • Electroencephalography
  • Epilepsy / diagnosis*
  • Epilepsy / etiology*
  • Epilepsy / therapy*
  • Genetic Testing
  • Humans
  • Infant
  • Infant, Newborn
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / metabolism*
  • Neuroimaging / methods
  • Phenotype
  • Symptom Assessment
  • Young Adult


  • Biomarkers