Neurophysiologic correlates of organic acidemias: a survey of 107 patients

• Published in: Brain & development (Tokyo. 1979) Vol. 16; pp. 125 - 144
• Main Authors: Stigsby, B., Yarworth, S.M., Rahbeeni, Z., Dabbagh, O., de Gier Munk, C., Abdo, N., Brismar, J., Gascon, G.G., Ozand, P.T.
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 01.11.1994; Elsevier Science
• Subjects: Acidosis - blood; Amino Acid Metabolism, Inborn Errors - metabolism; Amino Acids, Branched-Chain - metabolism; Biological and medical sciences; Brainstem auditory evoked potential; Carbohydrate Metabolism, Inborn Errors - metabolism; Child; Child, Preschool; Electroencephalography; Electromyography; Errors of metabolism; Evoked potential; Evoked Potentials, Auditory - physiology; Evoked Potentials, Somatosensory - physiology; Evoked Potentials, Visual - physiology; Female; Humans; Infant; Male; Medical sciences; Metabolic diseases; Metabolism, Inborn Errors - complications; Metabolism, Inborn Errors - physiopathology; Miscellaneous hereditary metabolic disorders; Motor nerve conduction; Nervous System Diseases - complications; Nervous System Diseases - physiopathology; Neural Conduction - drug effects; Neurons, Afferent - physiology; Organic acidemia; Retrospective Studies; Sensory nerve conduction; Somatosensory evoked potential; Visual evoked potential; Evoked potential; Visual evoked potential; Electroencephalography; Electromyography; Sensory nerve conduction; Organic acidemia; Somatosensory evoked potential; Brainstem auditory evoked potential; Motor nerve conduction; Human; Electrodiagnosis; Metabolic diseases; Exploration; Organic acids; Genetic disease; Acidemia
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/0387-7604(94)90104-X

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.