Neurophysiologic correlates of organic acidemias: a survey of 107 patients

Brain Dev. 1994 Nov:16 Suppl:125-44. doi: 10.1016/0387-7604(94)90104-x.

Abstract

The files of 107 patients with 19 different types of organic acidemia were reviewed retrospectively. Approximately 50% of the patients had abnormal electroencephalogram (EEG) at the time of initial study. In patients who had serial studies, the EEG deteriorated in 38% and improved in 15%. The predominant EEG abnormality encountered was slowing of the background activity in various degrees. Focal or generalized paroxysmal activity occurring in conjunction with slow background activity indicated a poor prognosis. Brainstem auditory evoked potentials (BAEP), visual evoked potentials (VEP), and somatosensory evoked potentials (SEP) were analyzed. The VEP was abnormal in 44%, BAEP in 39%, and SEP in 29% of the patients. Given the magnitude and frequency by which neurophysiological abnormalities occur in organic acidemias, neurophysiology testing provides complementary functional information and has an important place in the clinical work-up of these diseases.

Publication types

  • Clinical Trial

MeSH terms

  • Acidosis / blood
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Amino Acids, Branched-Chain / metabolism
  • Carbohydrate Metabolism, Inborn Errors / metabolism
  • Child
  • Child, Preschool
  • Electroencephalography
  • Electromyography
  • Evoked Potentials, Auditory / physiology
  • Evoked Potentials, Somatosensory / physiology
  • Evoked Potentials, Visual / physiology
  • Female
  • Humans
  • Infant
  • Male
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / physiopathology*
  • Nervous System Diseases / complications
  • Nervous System Diseases / physiopathology*
  • Neural Conduction / drug effects
  • Neurons, Afferent / physiology
  • Retrospective Studies

Substances

  • Amino Acids, Branched-Chain