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Int. J. Neonatal Screen. 2016, 2(4), 13; https://doi.org/10.3390/ijns2040013

A Non-Derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots via Tandem Mass Spectrometry

Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, National Center for Environmental Health, US Centers for Disease Control and Prevention, 4770 Buford Highway, NE, Mail Stop F-19, Atlanta, GA 30341, USA
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Academic Editor: Ralph Fingerhut
Received: 30 August 2016 / Revised: 9 November 2016 / Accepted: 17 November 2016 / Published: 24 November 2016
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Abstract

Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive genetic disorder which results in global developmental delay and intellectual disability. There is evidence that early treatment prevents intellectual disability and seizures. GAMT deficiency is now being discussed as a potential addition to the U.S. Recommended Uniform Screening Panel (RUSP); the availability of suitable screening methods must be considered. A neonatal screening derivatized method to quantify creatine (CRE) and guanidinoacetic acid (GAA) in dried blood spots by tandem mass spectrometry (MS/MS) has been described. Its key feature is the ability to detect CRE and GAA in the same extract generated from neonatal dried blood spots (DBS’s) during amino acids (AA) and acylcarnitines (AC) analysis. More laboratories are adopting non-derivatized MS/MS screening methods. We describe an improved, non-derivatized DBS extraction and MS/MS analytical method (AAAC-GAMT) that incorporates quantitation of CRE and GAA into routine analysis of amino acids, acylcarnitines, and succinylacetone. The non-derivatized AAAC-GAMT method performs comparably to the stand-alone GAMT and non-derivatized AAAC screening methods, supporting its potential suitability for high-throughput GAMT neonatal screening. View Full-Text
Keywords: guanidinoacetate methyltransferase; dried blood spots; tandem mass spectrometry; guanidinoacetic acid; creatine guanidinoacetate methyltransferase; dried blood spots; tandem mass spectrometry; guanidinoacetic acid; creatine
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Asef, C.K.; Khaksarfard, K.M.; De Jesús, V.R. A Non-Derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots via Tandem Mass Spectrometry. Int. J. Neonatal Screen. 2016, 2, 13.

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Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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