Progress in diagnosis and treatment of medium chain acyl coenzyme A dehydrogenase deficiency / 中国实用儿科杂志
Chinese Journal of Practical Pediatrics
;
(12): 22-25, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-817819
ABSTRACT
Medium chain acyl CoA dehydrogenase deficiency is a mitochondrial fatty acid oxidative deficiency disease. It has various clinical manifestations,such as hypoglycemia,lethargy,myasthenia,etc. Different clinical manifestations and atypical biochemical examination can increase the difficulty of diagnosis,which is more likely to result in misdiagnosis. If it is not treated in time,mortality and the rate of sequelae are high,but if confirmed by neonatal screening and treated in time,satisfactory results can be obtained.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Chinês
Revista:
Chinese Journal of Practical Pediatrics
Ano de publicação:
2019
Tipo de documento:
Artigo
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