CJRTP

Chinese Journal of Rehabilitation Theory and Practice >

2016 , Vol. 22 >Issue 8: 947 - 951

DOI: https://doi.org/10.3969/j.issn.1006-9771.2016.08.014

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
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  • 1. Capital Medical University School of Rehabilitation Medicine, Beijing 100068, China; 2. Beijing Bo'ai Hospital, China Rehabilitation Research Centre, Beijing 100068, China

Online published: 2016-09-22

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Abstract

Objective To explore the application of gas chromatography mass spectrometry (GC/MS) in children with high risk of inherited metabolic disease. Methods From March, 2010 to November, 2015, 119 children suspected with inherited metabolic disease were included. 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 basis for further diagnosis.

Key words： inherited metabolic disease; gas chromatography mass spectrometry; organic acid; screening

Cite this article

ZENG Fan-yong , WU Wei-hong , LIU Jian-jun , ZHANG Yan , LI Nan-ling , XI Bing-yu . Screening of Urinary Organic Acid in Children with High Risk of Inherited Metabolic Diseases[J]. Chinese Journal of Rehabilitation Theory and Practice, 2016 , 22(8) : 947 -951 . DOI: 10.3969/j.issn.1006-9771.2016.08.014

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