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Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect
DC Field | Value | Language |
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dc.contributor.author | 김흥동 | - |
dc.contributor.author | 이영목 | - |
dc.contributor.author | 이준수 | - |
dc.date.accessioned | 2015-06-10T12:51:34Z | - |
dc.date.available | 2015-06-10T12:51:34Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 1226-6884 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/110576 | - |
dc.description.abstract | 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. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | Korean | - |
dc.publisher | 대한소아신경학회 | - |
dc.relation.isPartOf | Journal of the Korean Child Neurology Society | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect | - |
dc.title.alternative | 신경학적 증상을 동반한 사립체 호흡 연쇄 복합체 결합 환자에 대한 임상적 분석 | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학) | - |
dc.contributor.googleauthor | Byoung-Ho Noh | - |
dc.contributor.googleauthor | Young-Mock Lee | - |
dc.contributor.googleauthor | Joo Hee Seo | - |
dc.contributor.googleauthor | Yun Jung Hur | - |
dc.contributor.googleauthor | Da Eun Jung | - |
dc.contributor.googleauthor | Joon Soo Lee | - |
dc.contributor.googleauthor | Heung Dong Kim | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01208 | - |
dc.contributor.localId | A02955 | - |
dc.relation.journalcode | J01815 | - |
dc.subject.keyword | Mitochondrial Respiratory Chain Defect | - |
dc.subject.keyword | Respiratory chain deficiency | - |
dc.subject.keyword | MRC | - |
dc.subject.keyword | Epilepsy | - |
dc.subject.keyword | Neurological manifestation | - |
dc.contributor.alternativeName | Kim, Heung Dong | - |
dc.contributor.alternativeName | Lee, Young Mock | - |
dc.contributor.affiliatedAuthor | Kim, Heung Dong | - |
dc.contributor.affiliatedAuthor | Lee, Young Mock | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 14 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 207 | - |
dc.citation.endPage | 215 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Child Neurology Society, Vol.14(2) : 207-215, 2006 | - |
dc.identifier.rimsid | 57135 | - |
dc.type.rims | ART | - |
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