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

Asef, Carter K.; Khaksarfard, Kameron M.; De Jesús, Víctor R.

doi:10.3390/ijns2040013

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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

Carter K. Asef

Kameron M. Khaksarfard

and

Víctor R. De Jesús

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

Author to whom correspondence should be addressed.

Academic Editor: Ralph Fingerhut

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

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

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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. https://doi.org/10.3390/ijns2040013

AMA Style

Asef CK, Khaksarfard KM, De Jesús VR. 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. International Journal of Neonatal Screening. 2016; 2(4):13. https://doi.org/10.3390/ijns2040013

Chicago/Turabian Style

Asef, Carter K., Kameron M. Khaksarfard, and Víctor R. De Jesús. 2016. "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" International Journal of Neonatal Screening 2, no. 4: 13. https://doi.org/10.3390/ijns2040013

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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

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