Mitochondrial fatty acid β-oxidation disorders and sudden death / 中国实用儿科杂志
Chinese Journal of Practical Pediatrics
; (12): 551-555, 2019.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-817892
Biblioteca responsável:
WPRO
ABSTRACT
Mitochondrial fatty acid β-oxidation defects are series of underlying fatal diseases. The enzyme deficiencies caused by related gene mutations would lead to energy metabolic crisis and multi-organ damage. The clinical features of the patients are varied. The disease course ranged from acute to chronic,with mild to severe symptoms. Some previously healthy patients presented as sudden unexpected death due to acute cardiac death. With the development and the application of biochemical and genetic technologies in the metabolic autopsy,mitochondrial fatty acid β-oxidation disorders were recognized to be the genetic cause of sudden death. By expanded neonatal screening using tandem mass spectrometry,the patients could be detected at asymptomatic period or early stage of disease. Early intervention is the key to reduce the mortality and the disability.
Texto completo:
Disponível
Contexto em Saúde:
ODS3 - Saúde e Bem-Estar
/
ODS3 - Meta 3.2 Reduzir as mortes de recém nascidos e crianças com menos de 5 anos
Problema de saúde:
Meta 3.2: Reduzir as mortes de recém nascidos e crianças com menos de 5 anos
/
Saúde Ambiental
Base de dados:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Practical Pediatrics
Ano de publicação:
2019
Tipo de documento:
Artigo