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Publication: Urea cycle related amino acids measured in dried bloodspots enable long-term in vivo monitoring and therapeutic adjustment
Baruteau, J Khalil, Y Grunewald, S Zancolli, M Chakrapani, A Cleary, M Davison, J Footitt, E Waddington, S.N Gissen, P
Baruteau, J
Khalil, Y
Grunewald, S
Zancolli, M
Chakrapani, A
Cleary, M
Davison, J
Footitt, E
Waddington, S.N
Gissen, P
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Abstract
Background: Dried bloodspots are easy to collect and to transport to assess various metabolites, such as amino acids. Dried bloodspots are routinely used for diagnosis and monitoring of some inherited metabolic diseases.
Methods: Measurement of amino acids from dried blood spots by liquid chromatography-tandem mass spectrometry.
Results: We describe a novel rapid method to measure underivatised urea cycle related amino acids. Application of this method enabled accurate monitoring of these amino acids to assess the efficacy of therapies in argininosuccinate lyase deficient mice and monitoring of these metabolites in patients with urea cycle defects.
Conclusion: Measuring urea cycle related amino acids in urea cycle defects from dried blood spots is a reliable tool in animal research and will be of benefit in the clinic, facilitating optimisation of protein-restricted diet and preventing amino acid deprivation.
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Date
2019-11-12
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Publisher
MDPI
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Research Projects
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Keywords
Amino acids,Argininosuccinate lyase,Dried blood spots,Tandem mass spectrometry,Urea cycle
Citation
Baruteau J, Khalil Y, Grunewald S, Zancolli M, Chakrapani A, Cleary M, Davison J, Footitt E, Waddington SN, Gissen P, Mills P. Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment. Metabolites. 2019 Nov 12;9(11):275. doi: 10.3390/metabo9110275.