Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders

Abstract

Inborn errors of metabolism (IEM) are relatively uncommon causes for seizures in children; however, they should be considered in the differential diagnosis because several IEM are potentially treatable and seizures can be resolved if appropriate treatment is initiated. Clues from clinical presentation, physical examination, laboratory tests, and brain imaging can raise the possibility of IEM. Several IEM can present with seizures, either as the main presenting finding or as a part of a more complex phenotype. These include cofactor-related disorders, glycine and serine metabolism defects, and other disorders.

Keywords: Epilepsy; Glycine; Inborn errors of metabolism; Myoclonic epilepsy; Pyridoxine; Seizures; Serine.