[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].

Abstract

OBJECTIVE:

To screen and diagnose fatty acid oxidation disorders (FAOD) in high risk children with inborn error of metabolism using tandem mass spectrometry.

METHODS:

The study group consisting of 2941 high risk cases of suspected inborn error of metabolism was tested. The acylcarnitines in the dry blood filter papers of patients were tested by tandem mass spectrometry. The diagnosis of FAOD was according to the levels of the acylcarnitines, the clinical symptoms, and other biochemistry study.

RESULTS:

Fourteen patients were diagnosed as FAOD. These patients included one carnitine palmitoyltransferase deficiency I, one carnitine palmitoyltransferase deficiency II, one short-chain acyl-CoA dehydrogenase deficiency, seven medium-chain acyl-CoA dehydrogenase deficiency, two very long-chain acyl-CoA dehydrogenase deficiency, and two multiple acyl-CoA dehydrogenase deficiency.

CONCLUSION:

FAOD are not rare in China. Analysis of acylcarnitines levels tested by tandem mass spectrometry is helpful to diagnose FAOD.

• Authors: Lian-shu Han, Jun Ye, Wen-juan Qiu, Xiao-lan Gao, Yu Wang, Yong-jun Zhang, Xue-fan Gu
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 24 Issue 6 Pg. 692-5 (Dec 2007) ISSN: 1003-9406 [Print] China
• PMID: 18067086 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• acylcarnitine
• Carnitine

Topics

• Adolescent
• Amino Acid Metabolism, Inborn Errors (diagnosis, genetics)
• Carnitine (analogs & derivatives, chemistry)
• Child
• Child, Preschool
• Female
• Humans
• Infant
• Infant, Newborn
• Lipid Metabolism (physiology)
• Lipid Metabolism, Inborn Errors (diagnosis)
• Male
• Mass Spectrometry
• Tandem Mass Spectrometry (methods)