2010
DOI: 10.3791/2014
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Abstract: Every infant born in the US is now screened for up to 42 rare genetic disorders called "inborn errors of metabolism". The screening method is based on tandem mass spectrometry and quantifies acylcarnitines as a screen for organic acidemias and also measures amino acids. All states also perform enzymatic testing for carbohydrate disorders such as galactosemia. Because the results can be non-specific, follow-up testing of positive results is required using a more definitive method. The present report describes t… Show more

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Cited by 9 publications
(7 citation statements)
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“…This research study was approved by the institutional review board and was considered exempt from informed consent of the participants. The Metabolic Screening Laboratory collected and screened infant urine for metabolic disorders using the urease method and provided data for this study 11 . Infants screened at the laboratory between 2011 and 2013 were identified, excluding infants with elevated DCA values.…”
Section: Methodsmentioning
confidence: 99%
See 1 more Smart Citation
“…This research study was approved by the institutional review board and was considered exempt from informed consent of the participants. The Metabolic Screening Laboratory collected and screened infant urine for metabolic disorders using the urease method and provided data for this study 11 . Infants screened at the laboratory between 2011 and 2013 were identified, excluding infants with elevated DCA values.…”
Section: Methodsmentioning
confidence: 99%
“…The Metabolic Screening Laboratory collected and screened infant urine for metabolic disorders using the urease method and provided data for this study. 11 Infants screened at the laboratory between 2011 and 2013 were identified, excluding infants with elevated DCA values. It was confirmed that the infants enrolled did not have any fatty acid metabolic disorders.…”
Section: Methodsmentioning
confidence: 99%
“…In this method, positive chemical ionization was used to preserve the molecular ion and other high molecular weight fragments making selection of unique tandem MS transitions easier. High throughput automated GC/tandem MS of trimethylsilyl derivatised biological compounds using specialised libraries of mass spectra has permitted the quantification of 192 metabolites including the AAs in the urine of new-born infants ( 40 ) .…”
Section: Gas Chromatography–mass Spectrometrymentioning
confidence: 99%
“…Several works have been published about the analysis of carbohydrates and polyalcohols in urine samples by different derivatization methods and their subsequent GC–MS analysis . The popularity of this technique owes much to the robust and library searchable spectra produced by electron ionization (EI).…”
Section: Introductionmentioning
confidence: 99%