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Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions

 Young Mock Lee  ;  Hoon Chul Kang  ;  Joon Soo Lee  ;  Se Hoon Kim  ;  Eung Yeop Kim  ;  Seung Koo Lee  ;  Abdelhamid Slama  ;  Heung Dong Kim 
 EPILEPSIA, Vol.49(4) : 685-690, 2008 
Journal Title
Issue Date
Acidosis, Lactic/diagnosis ; Age Factors ; Age of Onset ; Anticonvulsants/therapeutic use ; Atrophy ; Brain/pathology ; Child ; Child, Preschool ; Drug Resistance ; Electroencephalography/statistics & numerical data ; Epilepsy/diagnosis ; Epilepsy/diet therapy ; Epilepsy/etiology* ; Female ; Humans ; Ketosis/metabolism ; Magnetic Resonance Imaging/statistics & numerical data ; Magnetic Resonance Spectroscopy ; Male ; Mitochondrial Diseases/complications* ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/pathology ; Muscle, Skeletal/pathology
Mitochondrial disorder ; Respiratory chain ; Epilepsy
PURPOSE: To determine if defects in mitochondrial respiratory chain enzyme complexes (MRCs) contribute to the etiology of childhood epilepsy.

METHODS: We reviewed the clinical and laboratory features of 48 epileptic patients (23 male, 25 female) with MRC defects that were confirmed by biochemical assays using muscle biopsies.

RESULTS: (1) Thirty-five cases (72.9%) were MRC I deficient, one case (2.1%) was MRC II deficient, 11 cases (22.9%) were MRC IV deficient, and one case (2.1%) had combined MRC I and IV deficiencies. (2) In our clinical diagnosis, there were 10 cases (20.8%) with Leigh disease and one case each with myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS) or Alpers' disease (2.1%). Most of the remaining cases (75.0%) had uncategorized mitochondrial cytopathy with nonspecific encephalopathy. (3) For epileptic classification, there were two cases (4.2%) of Ohtahara syndrome, 10 cases (20.8%) of West syndrome, 12 cases (25.0%) of Lennox-Gastaut syndrome, two cases (4.2%) of Landau-Kleffner syndrome, 14 cases (29.2%) of generalized epilepsy, and eight cases (16.7%) of partial epilepsy. (4) The mean age of seizure onset was 2.68 +/- 2.21 (range: 1 month - 5.5 years). (5) Magnetic resonance imaging (MRI) showed diffuse cortical atrophy in 34 cases (70.8%), basal ganglia signal changes in 18 cases (37.5%) and thalamus signal changes in 12 cases (25.0%). (6) A ketogenic diet produced clinical improvements, including seizure reduction and global functional improvement in 75% of 24 patients.

CONCLUSIONS: MRC defects are one of the important causes of probably symptomatic childhood epilepsy. A ketogenic diet should be carefully considered for treatment of intractable epilepsy related to MRC defects.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
Kim, Eung Yeop(김응엽)
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Seung Koo(이승구) ORCID logo https://orcid.org/0000-0001-5646-4072
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
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