Clinical neurogenetics: neurologic presentations of metabolic disorders

Jennifer M Kwon; Kristin E D'Aco

doi:10.1016/j.ncl.2013.04.005

Clinical neurogenetics: neurologic presentations of metabolic disorders

Neurol Clin. 2013 Nov;31(4):1031-50. doi: 10.1016/j.ncl.2013.04.005. Epub 2013 Aug 8.

Authors

Jennifer M Kwon¹, Kristin E D'Aco

Affiliation

¹ 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.

PMID: 24176422
DOI: 10.1016/j.ncl.2013.04.005

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.

Keywords: Amino acid disorders; Inborn error of metabolism; Metabolic genetics; Organic acid disorders; Small molecule disorder; Urea cycle defect.

Publication types

Review

MeSH terms

Amino Acid Metabolism, Inborn Errors / diagnosis
Amino Acid Metabolism, Inborn Errors / genetics
Brain Diseases, Metabolic, Inborn / diagnosis*
Brain Diseases, Metabolic, Inborn / genetics*
Humans
Metabolism, Inborn Errors / diagnosis*
Metabolism, Inborn Errors / genetics*
Pyruvate Dehydrogenase Complex Deficiency Disease / diagnosis
Pyruvate Dehydrogenase Complex Deficiency Disease / genetics