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

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 i

SUBMITTER: Baruteau J 

PROVIDER: S-EPMC6918381 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature