Screening of Urinary Organic Acid in Children with High Risk of Inherited Metabolic Diseases
ZENG Fan-yong
WU Wei-hong
LIU Jian-jun
ZHANG Yan
LI Nan-ling
XI Bing-yu
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.
Keywords：inherited metabolic diseasegas chromatography mass spectrometryorganic acidscreening
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 947-951 )