Clinical Survey of 5 Children with Organic Acidemias
- VernacularTitle:有机酸血症5例
- Author:
li, CHEN
;
shu-li, CHEN
;
ruo-xin, LI
;
zhi-tian, XIAO
;
dan, FU
;
jian-xiang, LIAO
- Publication Type:Journal Article
- Keywords:
organic acidemias;
methylmalolic acidemias;
propionic acidemias;
gas chromotography-mass spectrometry
- From:Journal of Applied Clinical Pediatrics
2004;0(08):-
- CountryChina
- Language:Chinese
-
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.
