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Journal of the Korean Child Neurology Society 2006;14(2):207-214.
Published online November 30, 2006.
Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect.
Byoung Ho Noh, Young Mock Lee, Joo Hee Seo, Yun Jung Hur, Da Eun Jung, Joon Soo Lee, Heung Dong Kim
Department of Pediatrics, Institute for Handicapped Children, Severance Children's Hospital Yonsei University College of Medicine, Seoul, Korea. hdkimmd@yumc.yonsei.ac.kr
The study was carried out to characterized the clinical and the laboratorial features of children with mitochondrial respiratoy chain disorders in Korea. METHODS:We retrospectively analyzed the clinical and the loboratorial data of 28 children with significantly low activities in respiratory chain complexes of muscle using spectrophotometry. RESULTS:The mean age was 6.67+/-4.44 years and the ratio males to female was 1.15:1. Eighteen patients (64.3%) showed defects in Complex I, 8 (28.6%) in Complex VI, 1 (3.6%) in Complex II, and 1 in Complex I and IV. Eight cases (28.6%) were diagnosed with Leigh disease, one with MELAS, Kearns-Sayre syndrome, and Alpers disease retrospectively, but the predominant clinical presentations were a nonspecific encephalopathy (17/28, 60.7%). Epilepsy was seen in 21 (75.0%) patients, while developmental delay in 27 (96.4%) patients. Fifteen out of 28 children (53.6%), clinical symptoms mostly appeared below age of 1 year. The brain MRI showed diffuse cortical atrophy in 18 (64.3%) patients and basal ganglia signal changes in 12 (42.9%) patients. CONCLUSION:The defects in mitochondrial respiratory chain complexes should be considered in any children with an unexplained neurological condition including even epilepsy.
Key Words: Mitochondrial Respiratory Chain Defect, Respiratory chain deficiency, MRC, Epilepsy, v


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