title: Inborn errors of metabolism causing epilepsy.
abstract: Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in a child with a lysosomal storage disorder or peroxisomal leukodystrophy. This review concentrates on those IEMs for which specific treatment is available. The common metabolic causes of seizures vary according to the age at presentation. Features from the history, examination, imaging, and first line biochemical investigations can all provide clues to an inborn error. This review attempts to delineate these and to provide a guide to the specific tests that can be used to make the diagnosis of disorders with specific treatment.
authors.affiliation: Clinical 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
authors.forename: Shamima
authors.initials: S
authors.lastname: Rahman
authors.forename: Emma J
authors.initials: EJ
authors.lastname: Footitt
authors.forename: Sophia
authors.initials: S
authors.lastname: Varadkar
authors.forename: Peter T
authors.initials: PT
authors.lastname: Clayton
mesh_terms: D000367:Age Factors; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology*; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000145:classification / Q000150:complications*; D011736:Pyridoxine / Q000627:therapeutic use; D014451:Ubiquinone / Q000627:therapeutic use
chemical_list: D014451:Ubiquinone; D011736:Pyridoxine