Screening of Urinary Organic Acid in Children with High Risk of Inherited Metabolic Diseases

VernacularTitle:遗传性代谢病高危患儿尿有机酸的筛查
Author: Fanyong ZENG ; Weihong WU ; Jianjun LIU ; Yan ZHANG ; Nanling LI ; Bingyu XI
Publication Type:Journal Article
Keywords: inherited metabolic disease; gas chromatography mass spectrometry; organic acid; screening
From: Chinese Journal of Rehabilitation Theory and Practice 2016;22(8):947-951
CountryChina
Language:Chinese
Abstract: Objective To explore the application of gas chromatography mass spectrometry (GC/MS) in children with high risk of inher-ited metabolic disease. Methods From March, 2010 to November, 2015, 119 children suspected with inherited metabolic disease were in-cluded. The urinary organic acid was detected with GC/MS, and related diseases were screened. Results Seventeen children (14.29%) were positive with inherited metabolic disease, in which 16 cases (94.12%) manifested with development retardation. 20 children (16.81%) were probable positive. Conclusion GC/MS is effective in screening children with high risk of inherited metabolic disease, which can provide ba-sis for further diagnosis.