×

Welcome to LABSYTEMSDX.COM

You browser is out of date and some functionality on this site may be not supported.
Please consider upgrading to the latest version of your browser for the best possible experience.

continue to LABSYTEMSDX.COM

×

Welcome to LABSYTEMSDX.COM

Kindly note that this website is not compatible with this browser. Some features may not work. Inconvenience regretted.

continue to LABSYTEMSDX.COM
Loading...

Posters

Creating long lasting visual impressions

A Novel Method for Inclusion of all Urea Cycle Disorders into Newborn Screening

29 - August - 2016

The inclusion of urea cycle disorders (UCD) detection into newborn screening (NBS) is highly desirable; however, it is hampered by the lack of a specific marker for most of these disorders (exceptions to this are citrulline and argininosuccinate for detection of citrullinemia and argininosuccinic aciduria, respectively). Thus far, the common feature of all (proximal- and distal-) UCDs, hyperammonemia, is not directly detectable in dried blood spots (DBS). The quantification of secondary elevations of glutamine seemed, thus far, not feasible, based on the assumption of the instability of glutamine in DBS. We describe here a reliable method for the simultaneous detection of lysine and glutamine from DBS in multiple reaction monitoring (MRM) with a second-tier UPLC-method for the separation and specific quantification of glutamine. We combined this newly developed method with the measurement of all specific amino acids (arginine, argininosuccinic acid, citrulline, ornithine, and proline), N-acetyl-glutamate, and orotic acid. This combination proofed to be a reliable and sensitive method for the detection of all UCDs using tandem-mass spectrometry NBS. The next step will be a prospective study with dried blood samples from patients with hyperammonemia, allowing further testing and evaluation of the method in practice.

Download