Inherited Metabolic Diseases Screening in Children with Developmental Retardation: 97 Cases Report
10.3969/j.issn.1006-9771.2015.01.025
- VernacularTitle:发育落后患儿遗传性代谢病血液筛查结果分析
- Author:
Fanyong ZENG
;
Weihong WU
;
Jianjun LIU
;
Yan ZHANG
;
Bingyu XI
;
Nanling LI
- Publication Type:Journal Article
- Keywords:
inherited metabolic diseases, developmental retardation, tandem mass spectrometry, blood screening
- From:
Chinese Journal of Rehabilitation Theory and Practice
2015;(1):93-95
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the result of blood examination for the children with the developmental retardation and suspected inherited metabolic diseases. Methods Tandem mass spectrometry was used to detect the small molecule metabolites content of acylcarnitine and amino acid in filter paper in 97 children from March 2010 to October 2013. Results There were 3 cases of positive (3.09%), 55 of suspicion (56.7%). Conclusion Tandem mass spectrometry is valuable to screen etiology for children with developmental retardation.
