目的:探讨智力低下、癫等神经系统疾病患儿中有机酸尿症的发病情况、临床特点、诊断与治疗方法。
SUMMARY Objective:To investigate the incidences, clinical features, diagnosis and treatment of organic acidurias in children with high risk to mental retardation and other neurological defects.
MS尿有机酸分析是有机酸尿(血)症筛查与诊断的可靠方法。
GC/MS is a very important method in diagnosis of organic acidemias.
结论GC/ MS尿有机酸分析对本症有确诊意义,早期发现、合理治疗可有效地改善预后。
Conclusion GC/MS is a very important method in diagnosing methylmalonic aciduria. Early diagnosis and adequate treatment contributes a lot to improve the mental prognosis of the patients.
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