Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Woo, Hye In | - |
dc.contributor.author | Park, Hyung-Doo | - |
dc.contributor.author | Lee, Yong-Wha | - |
dc.contributor.author | Lee, Dong Hwan | - |
dc.contributor.author | Ki, Chang-Seok | - |
dc.contributor.author | Lee, Soo-Youn | - |
dc.contributor.author | Kim, Jong-Won | - |
dc.date.accessioned | 2021-08-12T05:48:30Z | - |
dc.date.available | 2021-08-12T05:48:30Z | - |
dc.date.issued | 2011-01 | - |
dc.identifier.issn | 1598-6535 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/16818 | - |
dc.description.abstract | Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death syndrome-like illness. The most frequently isolated mutation in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene of Caucasian patients with MCADD is c.985A>G, but ethnic variations exist in the frequency of this mutation. Here, we describe 2 Korean pediatric cases of MCADD, which was detected during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The levels of medium-chain acylcarnitines, including octanoylcarnitine (C8), hexanoylcarnitine (C6), and decanoylcarnitine (C10), were typically elevated. Molecular studies revealed that Patient 1 was a compound heterozygote for c.449_452deICTGA (p.Thr150ArgfsX4) and c.461T>G (p.L154W) mutations, and Patient 2 was a compound heterozygote for c.449_452deICTGA (p.Thr150ArgfsX4) and c.1189T>A (p.Y397N) mutations. We detected asymptomatic patients with MCADD by using a newborn screening test and confirmed it by ACADM mutation analysis. This report presents evidence of the biochemical and molecular features of MCADD in Korean patients and, to the best of our knowledge, this is the first report of the c.461T>G mutation in the ACADM gene. | - |
dc.format.extent | 7 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | Korean Society for Laboratory Medicine | - |
dc.title | Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency | - |
dc.type | Article | - |
dc.publisher.location | 대한민국 | - |
dc.identifier.doi | 10.3343/kjlm.2011.31.1.54 | - |
dc.identifier.scopusid | 2-s2.0-79959559314 | - |
dc.identifier.wosid | 000286645800011 | - |
dc.identifier.bibliographicCitation | Korean Journal of Laboratory Medicine, v.31, no.1, pp 54 - 60 | - |
dc.citation.title | Korean Journal of Laboratory Medicine | - |
dc.citation.volume | 31 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 54 | - |
dc.citation.endPage | 60 | - |
dc.type.docType | Article | - |
dc.identifier.kciid | ART001512056 | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.relation.journalResearchArea | Medical Laboratory Technology | - |
dc.relation.journalWebOfScienceCategory | Medical Laboratory Technology | - |
dc.subject.keywordPlus | TANDEM MASS-SPECTROMETRY | - |
dc.subject.keywordPlus | MILD MCAD DEFICIENCY | - |
dc.subject.keywordPlus | PHENOTYPE CORRELATIONS | - |
dc.subject.keywordPlus | GENOTYPE | - |
dc.subject.keywordPlus | MUTATION | - |
dc.subject.keywordPlus | JAPAN | - |
dc.subject.keywordPlus | NEWBORNS | - |
dc.subject.keywordPlus | POPULATION | - |
dc.subject.keywordPlus | DISORDERS | - |
dc.subject.keywordPlus | DIAGNOSIS | - |
dc.subject.keywordAuthor | Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) | - |
dc.subject.keywordAuthor | ACADM | - |
dc.subject.keywordAuthor | Novel mutation | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
(31538) 22, Soonchunhyang-ro, Asan-si, Chungcheongnam-do, Republic of Korea+82-41-530-1114
COPYRIGHT 2021 by SOONCHUNHYANG UNIVERSITY ALL RIGHTS RESERVED.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.