Neurophysiologic correlates of organic acidemias: a survey of 107 patients.
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.
Stigsby
B
B
Neurophysiology Laboratory, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Yarworth
S M
SM
Rahbeeni
Z
Z
Dabbagh
O
O
de Gier Munk
C
C
Abdo
N
N
Brismar
J
J
Gascon
G G
GG
Ozand
P T
PT
D000138:Acidosis / Q000097:blood; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism; D000597:Amino Acids, Branched-Chain / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004576:Electromyography; D005072:Evoked Potentials, Auditory / Q000502:physiology; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000503:physiopathology*; D009422:Nervous System Diseases / Q000150:complications / Q000503:physiopathology*; D009431:Neural Conduction / Q000187:drug effects; D009475:Neurons, Afferent / Q000502:physiology; D012189:Retrospective Studies
D000597:Amino Acids, Branched-Chain