title: Clinical neurogenetics: neurologic presentations of metabolic disorders.
abstract: This article reviews aspects of the neurologic presentations of selected treatable inborn errors of metabolism within the category of small molecule disorders caused by defects in pathways of intermediary metabolism. Disorders that are particularly likely to be seen by neurologists include those associated with defects in amino acid metabolism (organic acidemias, aminoacidopathies, urea cycle defects). Other disorders of small molecule metabolism are discussed as additional examples in which early treatments have the potential for better outcomes.
authors.affiliation: Division of Child Neurology, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA; Division of Child Neurology, Department of Pediatrics, University of Rochester Medical Center, Rochester, NY, USA. Electronic address: jennifer_kwon@urmc.rochester.edu.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Kwon
authors.forename: Kristin E
authors.initials: KE
authors.lastname: D'Aco
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000175:diagnosis / Q000235:genetics
keywords: Amino acid disorders; Inborn error of metabolism; Metabolic genetics; Organic acid disorders; Small molecule disorder; Urea cycle defect