Metabolon Blog

Metabolon IEM Abstract Recognized at AACC

We’ve been doing some ground-breaking precision medicine work with Baylor Miraca Genetics Laboratories at Baylor College of Medicine using untargeted metabolomics to screen for inborn errors of metabolism (IEMs) since 2014.

Metabolomics is particularly well-suited for IEMs and an important step for us in realizing the promise of precision medicine. Our ability to zero in on patient-specific metabolic disturbance and identify biomarkers might help physicians make a diagnosis more rapidly and also might guide long-term clinical management with follow-up monitoring.

Last week, we presented a poster demonstrating this success at the American Association of Clinical Chemists (AACC) Annual Meeting. We are proud to share that our abstract was one of 42 awarded a Distinguished Abstract Award by the National Academy of Clinical Biochemistry from a group of 773 abstracts accepted for the AACC meeting.

About the Poster

IEMs are inherited metabolic disorders. Most are caused by defects in the enzymes that help process nutrients, which result in an accumulation of toxic substances or a deficiency of substances needed for normal body function. Making a swift, accurate diagnosis of an IEM is critical in preventing brain and other organ damage, and even death.

While there are several hundred recognized IEMs, state public health programs only screen for 40 disorders or fewer at birth, according to NIH. Currently, in order to accurately diagnose whether an IEM is present requires running an array of different targeted assays, which adds to costs and can ultimately only diagnose a limited number of IEMs.

Given the advances in metabolomics and our ability to comprehensively cover broad classes of biochemicals with high accuracy and precision, a single sample and assay may suffice for screening a wide number of these disorders.

The Metabolon metabolomics platform differentiates pathway-specific disorders by targeting multiple biomarkers along the same pathway. Here, the platform clearly identifies disease-specific signatures to distinguish a branched-chain amino acid disorders versus an unaffected patient.

Our platform screens for multiple disorders in a single blood plasma sample and includes disorders screened with blood spots, as well as other disorders that are not assessed with these diagnostic assays. Traditionally, a sample may need to be run with 10 to 20 diagnostic kits to reach the same conclusion.

There are other advantages, as well. The platform may monitor therapeutic interventions and disease signatures simultaneously (if both are illustrative through small molecule signatures).


Results suggest that metabolomic profiling may be far more effective than currently available biochemical tests and reduce unnecessary testing. One comprehensive method could successfully screen for many genetic disorders that would ordinarily take many assay panels, saving time and costs.

In addition to IEMs, metabolomics is likely to have clinical value as a precision medicine tool for screening, monitoring and treatment of a wide range of illnesses.