Objective To explore the value of tandem mass spectrometry analysis in diagnosis of high risk children with inborn errors of metabolism(IEM).Methods From January 2010 to December 2013,617 cases who were suspected inborn errors of metabolism were collected to be tested by tandem mass spectrometry (MS/MS).Screening positive cases for the urinary metabolic screening or genetic testing had been confirmed,and the related clinical data were analyzed and summarized in this paper.Results In the 617 cases,a total of 24 cases (3.9%) were diagnosed with 10 kinds of inborn errors of metabolism.4 cases (16.7%) were amino acid metabolic diseases in which citrullinemia was common.14 cases (58.3%) were organic acid metabolism disorder in which methylmalonic acidemia was common.Medium-chainacyl-CoA dehydrogenase deficiency (2 cases) and mitochondrial encephalomyopathy (2 cases) were common in fatty acid dysoxidation (6 cases 25%).Conclusion Pediatricians should attach importance to the utilization of MS/MS in detection of inherited metabolic disorders in order to early diagnosis and early intervention.
Key words
inborn errors of metabolism /
tandem mass spectrometry (MS/MS) /
children
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
References
[1] Sedel F.Inborn errors of metabolism in adult neurology[J].Rev Neurol (Paris),2013,169(S1):63-69.
[2] Alfadhel M,Alrifai MT,Trujillano D,et al.Asparagine synthetase deficiency:new inborn errors of metabolism[J].JIMD Rep,2015 Feb 8.[Epub ahead of print].
[3] Parvaneh N,Quartier P,Rostami P,et al.Inborn errors of metabolism underlying primary immunodeficiencies[J].J Clin Immunol,2014,34(7):753-771.
[4] Camp KM,Lloyd-Puryear MA,Yao L,et al.Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism[J].Mol Genet Metab,2013,109(4):319-328.
[5] Camp KM,Lloyd-Puryear MA,Huntington KL.Nutritional treatment for inborn errors of metabolism: indications,regulations,and availability of medical foods and dietary supplements using phenylketonuria as an example[J].Mol Genet Metab,2012,107(1-2):3-9.
[6] Boelens JJ,Orchard PJ,Wynn RF.Transplantation in inborn errors of metabolism: current considerations and future perspectives[J].Br J Haematol,2014,167(3):293-303.
[7] 麻宏伟.出生缺陷及常见遗传代谢性疾病的筛查及干预[J].中国儿童保健杂志,2013,21(4):337-338,341.
[8] 娄燕,尹娜,陈凤琴,等.串联质谱技术选择性筛查遗传代谢病高危患儿552例初步分析[J].中国当代儿科杂志,2011,13(4):296-299.
[9] 杨楠,韩连书,叶军,等.新生儿期氨基酸、有机酸及脂肪酸氧化代谢病疾病谱分析[J].临床儿科杂志,2012,30(9):805-808.
PDF(487 KB)
