Cited 0 times in
Lennox-Gastaut 증후군으로 발현된 3-Methylcrotonyl-CoA Carboxylase 결핍증 1례
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김흥동 | - |
dc.date.accessioned | 2015-07-14T16:42:59Z | - |
dc.date.available | 2015-07-14T16:42:59Z | - |
dc.date.issued | 2004 | - |
dc.identifier.issn | 1226-6884 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/111446 | - |
dc.description.abstract | 3-Methylcrotonyl-CoA carboxylase(MCC) is a biotin-dependent enzyme involved in the leucine metabolism. We describe a patient with MCC deficiency who manifested with Reye syndrome-like illness with status epilepticus, metabolic acidosis, hypoglycemia, hyperammonemia, elevated liver enzymes and neurologic impairments after a viral gastro-enteritis and then suffered from Lennox-Gastaut syndrome. Urinary organic acid analysis revealed increased excretions of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. This patient was managed with a leucine restriction diet and supplementation of biotin and carnitine, which was not so effective. He suffered from neurologic sequelae such as Lennox-Gastaut syndrome, motor and cognitive impairements. | - |
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 | Lennox-Gastaut 증후군으로 발현된 3-Methylcrotonyl-CoA Carboxylase 결핍증 1례 | - |
dc.title.alternative | A Case of Lennox-Gastaut Syndrome due to 3-Methylcrotonyl CoA Carboxylase Deficiency | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학) | - |
dc.contributor.googleauthor | 한우석 | - |
dc.contributor.googleauthor | 강훈철 | - |
dc.contributor.googleauthor | 이홍진 | - |
dc.contributor.googleauthor | 김흥동 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.relation.journalcode | J01815 | - |
dc.subject.keyword | 3-Methylcrotonyl-CoA carboxylase deficiency | - |
dc.subject.keyword | Reye syndrome-like illness | - |
dc.subject.keyword | Lennox-Gastaut syndrome | - |
dc.contributor.alternativeName | Kim, Heung Dong | - |
dc.rights.accessRights | not free | - |
dc.citation.volume | 12 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 92 | - |
dc.citation.endPage | 98 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Child Neurology Society, Vol.12(1) : 92-98, 2004 | - |
dc.identifier.rimsid | 35820 | - |
dc.type.rims | ART | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.