Epilepsy in Inborn Errors of Metabolism with Therapeutic Options

Inborn errors of metabolism (IEM) are rare conditions that represent more than 1,000 diseases, with a global prevalence of about 1:2,000 individuals. Approximately 40 –60% of IEM may present with epilepsy as one of the main neurological signs. Epilepsy in IEM may appear at any age (fetal, newborn, infant, adolescent, or even adult). Different pathophysiological bases may be responsible for the clinical phenotype, such as disturbances in energy metabolism (mitoc hondrial and fatty oxidation disorders, GLUT1 and cerebral creatine deficiency), accumulation of complex molecules (lysosomal storage disorders), toxic mechanisms (organic acidurias and urea cycle disorders), or impairment of neurotransmission.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research