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Open AccessArticle

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment

1
Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK
2
Gene Transfer Technology Group, Institute for Women’s Health, University College London, London WC1E 6BT, UK
3
Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK
4
National Institute of Health Research Great Ormond Street Hospital Biomedical Research Centre, London W1T 7HA, UK
5
Wits/SAMRC Antiviral Gene Therapy Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2000, South Africa
6
MRC Laboratory for Molecular Cell Biology, University College London, London WC1E 6BT, UK
*
Author to whom correspondence should be addressed.
Metabolites 2019, 9(11), 275; https://doi.org/10.3390/metabo9110275
Received: 28 September 2019 / Revised: 19 October 2019 / Accepted: 5 November 2019 / Published: 12 November 2019
(This article belongs to the Special Issue Genetic Metabolic Diagnostics)
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. View Full-Text
Keywords: tandem mass spectrometry; dried blood spots; urea cycle; amino acids; argininosuccinate lyase tandem mass spectrometry; dried blood spots; urea cycle; amino acids; argininosuccinate lyase
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Baruteau, J.; Khalil, Y.; Grunewald, S.; Zancolli, M.; Chakrapani, A.; Cleary, M.; Davison, J.; Footitt, E.; Waddington, S.N.; Gissen, P.; Mills, P. Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment. Metabolites 2019, 9, 275.

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