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Lennox-Gastaut 증후군으로 발현된 3-Methylcrotonyl-CoA Carboxylase 결핍증 1례

Other Titles
 A Case of Lennox-Gastaut Syndrome due to 3-Methylcrotonyl CoA Carboxylase Deficiency 
Authors
 한우석  ;  강훈철  ;  이홍진  ;  김흥동 
Citation
 Journal of the Korean Child Neurology Society (대한소아신경학회지), Vol.12(1) : 92-98, 2004 
Journal Title
 Journal of the Korean Child Neurology Society (대한소아신경학회지) 
ISSN
 1226-6884 
Issue Date
2004
Keywords
3-Methylcrotonyl-CoA carboxylase deficiency ; Reye syndrome-like illness ; Lennox-Gastaut syndrome
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.
Full Text
http://scholar.dkyobobook.co.kr/searchDetail.laf?barcode=4010022739233
Appears in Collections:
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
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/111446
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