The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry.
Clin Chim Acta
; 412(13-14): 1270-4, 2011 Jun 11.
Article
em En
| MEDLINE
| ID: mdl-21463612
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Povo Asiático
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Espectrometria de Massas em Tandem
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Cromatografia Gasosa-Espectrometria de Massas
/
Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Clin Chim Acta
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
China