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Urea cycle related amino acids measured in dried bloodspots enable long-term in vivo monitoring and therapeutic adjustment

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dc.contributor.authorBaruteau, J
dc.contributor.authorKhalil, Y
dc.contributor.authorGrunewald, S
dc.contributor.authorZancolli, M
dc.contributor.authorChakrapani, A
dc.contributor.authorCleary, M
dc.contributor.authorDavison, J
dc.contributor.authorFootitt, E
dc.contributor.authorWaddington, S.N
dc.contributor.authorGissen, P
dc.contributor.authorMills, P
dc.contributor.departmentSimon N Waddington: Wits/SAMRC Antiviral Gene Therapy Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2000, South Africa.en_US
dc.date.accessioned2024-08-20T16:57:56Z
dc.date.available2024-08-20T16:57:56Z
dc.date.epub2019-11-12
dc.date.issued2019-11-12
dc.description.abstractBackground: 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.en_US
dc.identifier.citationBaruteau 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.
dc.identifier.journalMetabolitesen_US
dc.identifier.urihttps://doi.org/10.3390/metabo9110275
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/31718089/
dc.identifier.urihttps://hdl.handle.net/11288/597243
dc.language.isoenen_US
dc.publisherMDPIen_US
dc.research.unitAntiviral Gene Therapyen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subjectAmino acids
dc.subjectArgininosuccinate lyase
dc.subjectDried blood spots
dc.subjectTandem mass spectrometry
dc.subjectUrea cycle
dc.titleUrea cycle related amino acids measured in dried bloodspots enable long-term in vivo monitoring and therapeutic adjustmenten_US
dc.typeArticleen_US
dspace.entity.typePublication
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