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Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect

Other Titles
 신경학적 증상을 동반한 사립체 호흡 연쇄 복합체 결합 환자에 대한 임상적 분석 
 Byoung-Ho Noh  ;  Young-Mock Lee  ;  Joo Hee Seo  ;  Yun Jung Hur  ;  Da Eun Jung  ;  Joon Soo Lee  ;  Heung Dong Kim 
 Journal of the Korean Child Neurology Society, Vol.14(2) : 207-215, 2006 
Journal Title
 Journal of the Korean Child Neurology Society (대한소아신경학회지) 
Issue Date
Mitochondrial Respiratory Chain Defect ; Respiratory chain deficiency ; MRC ; Epilepsy ; Neurological manifestation
Purpose : 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.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
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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