Dhamija Radhika, Patterson Marc C, Wirrell Elaine C
Division of Child and Adolescent Neurology, Mayo Clinic Children's Center, Rochester, MN 55905, USA.
J Child Neurol. 2012 May;27(5):663-71. doi: 10.1177/0883073811435829. Epub 2012 Feb 28.
Seizures are often the first manifestation of central nervous system dysfunction and are common in many inborn errors of metabolism, especially in neonates, infants, and children. A high index of suspicion is required to diagnose inborn errors of metabolism as the cause of seizures. It is also important to recognize these metabolic disorders early, as specific disease-modifying treatments are available for some with favorable long-term outcomes. This review discusses the classification of metabolic disorders as a cause of seizures based on pathogenesis and age and proposes a tiered approach for cost-effective diagnosis of metabolic disorders.