Clinical Survey of 5 Children with Organic Acidemias / 实用儿科临床杂志
Journal of Applied Clinical Pediatrics
;
(24)2004.
Artigo
em Chinês
| WPRIM
| ID: wpr-638747
ABSTRACT
Objective To improve the recognition of nervous system symptoms of inborn errors.Methods Five patients with organic acidemias were screened by urine organic acid analysis(gas chromotography-mass spectrometry,GC/MS),3 cases of methylmalolic acidemias(MMA) and 2 cases of propionic acidemias(PA) were confirmed.They were treated with special diet and medicine after diagnosis.Result The improvement of mental development was observed after treatment.Conclusions Most of organic acidemias involve nervous systems,causing non-specific symptoms of nervous system as lethergy,seizures,mental retardation.Inborn errors of metabolism shall be kept in mind when causes of the symtoms of acidosis,seisures,mental retardation and lethergy are investigated.GC/MS is a very important method in diagnosis of organic acidemias.Early diagnosis and early treatment can improve the mental prognosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Journal of Applied Clinical Pediatrics
Ano de publicação:
2004
Tipo de documento:
Artigo
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