Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment
| Title: | Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment |
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| Authors: | Julien Baruteau, Youssef Khalil, Stephanie Grunewald, Marta Zancolli, Anupam Chakrapani, Maureen Cleary, James Davison, Emma Footitt, Simon N. Waddington, Paul Gissen, Philippa Mills |
| Source: | Metabolites, Vol 9, Iss 11, p 275 (2019) |
| Publisher Information: | MDPI AG, 2019. |
| Publication Year: | 2019 |
| Collection: | LCC:Microbiology |
| Subject Terms: | tandem mass spectrometry, dried blood spots, urea cycle, amino acids, argininosuccinate lyase, Microbiology, QR1-502 |
| More Details: | 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2218-1989 27464865 |
| Relation: | https://www.mdpi.com/2218-1989/9/11/275; https://doaj.org/toc/2218-1989 |
| DOI: | 10.3390/metabo9110275 |
| Access URL: | https://doaj.org/article/b37464dd2746486582cd7f094e19969b |
| Accession Number: | edsdoj.b37464dd2746486582cd7f094e19969b |
| Database: | Directory of Open Access Journals |
| ISSN: | 22181989 27464865 |
|---|---|
| DOI: | 10.3390/metabo9110275 |
| Published in: | Metabolites |
| Language: | English |