The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry.

Abstract

BACKGROUND:

Analyses of amino acid/acylcarnitines in dried blood spots (DBS) and organic acids in urine are the primary tests for inborn errors of metabolism (IEMs). Automated tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GC/MS) can rapidly and simultaneously detect numerous metabolic compounds with high precision and sensitivity.

METHODS:

Three thousand four hundred and twenty-nine DBSs and 2781 urine samples were collected from our hospital patients with suspected IEMs, and analyzed for amino acid/acylcarnitines and organic acids by MS/MS and GC/MS, respectively. The results were used in a coincidental survey to determine the efficacy of these methods for the diagnosis of IEMs.

RESULTS:

Nineteen different types of IEMs were detected in 121 affected cases (1.95% of 6210 samples). There were 66.12% amino acid disorders, 29.75% organic acid disorders and 4.13% with fatty acid oxidation disorders.

CONCLUSIONS:

the sick infants tested in this study had high prevalence rates of neonatal intrahepatic cholestasis, methylmalonic acidemia, hyperphenylalaninemia, tyrosinemia type I, and urea cycle disorders.

CONCLUSION:

The combined use of MS/MS and GC/MS is an appropriate tool for screening of IEMs in sick infants.

• Authors: Weihua Sun, Yi Wang, Yi Yang, Jianshe Wang, Yun Cao, Feihong Luo, Wei Lu, Yongmei Peng, Haili Yao, Penglin Qiu
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 412 Issue 13-14 Pg. 1270-4 (Jun 11 2011) ISSN: 1873-3492 [Electronic] Netherlands
• PMID: 21463612 (Publication Type: Journal Article)
• Copyright: Copyright © 2011 Elsevier B.V. All rights reserved.

Chemical References

• Amino Acids
• Fatty Acids

Topics

• Adolescent
• Amino Acids (blood)
• Asian People
• Child
• Child, Preschool
• Fatty Acids (metabolism)
• Female
• Gas Chromatography-Mass Spectrometry (methods)
• Humans
• Infant
• Infant, Newborn
• Male
• Metabolism, Inborn Errors (blood, diagnosis, metabolism, urine)
• Oxidation-Reduction
• Tandem Mass Spectrometry (methods)