Newborn Screening

Metabolomics Offers Comprehensive Screening of Inborn Errors of Metabolism

Newborn screening (NBS) identifies infants with inborn errors of metabolism (IEM) and other rare diseases that, if left untreated, could cause severe clinical outcomes or death. IEM are rare genetic disorders that trigger alterations or deficiencies in enzymes involved in metabolism. While individually rare, IEM occur in about 1 in 2,500 live births.1 However, a newborn may exhibit clinical signs that do not map to specific disorders, or a traditional NBS panel may come back with no clues. In these frustrating situations, clinical researchers and patients need more places to turn for answers. Metabolon offers a comprehensive approach to identifying metabolic perturbations across multiple biochemical pathways by measuring hundreds of metabolites in a single sample.

Improving Newborn Screening

Recent advances in NBS have improved the early detection and diagnosis of IEM. Yet, many treatable IEM are not included on standard NBS panels; thus, newborns with symptoms of an IEM could still require further testing, even when traditional NBS findings are normal. Traditional NBS relies on several targeted panels and numerous sample types to make a conclusive diagnosis across a broad array of rare diseases. Current screening methods typically include three panels, targeting only 43 to 49 disorders.2 A more comprehensive clinical test would help clinicians determine the correct diagnosis and treatment.

Metabolomics Drives Identification of Rare Disease Signatures

There are about 7,000 rare diseases at the time of this article’s publication. Often the clinical manifestations of these diseases are vague, or the disturbed metabolic pathway is not immediately apparent. Untargeted metabolomics, where prior knowledge of the affected metabolic pathway is not required, can extend the diagnostic potential of 4,500 of the known rare diseases. Metabolon’s technology delivers in-depth coverage of multiple pathways that can be altered in patients with IEM or other rare diseases. Rather than targeting these pathways and enzymes with single tests and collecting various samples, our untargeted metabolomics analysis expands the information available to clinicians to make quicker diagnoses in these patients. Metabolon has validated untargeted metabolomics for analyzing EDTA plasma, urine, and cerebral spinal fluid (CSF).

New Hope for Newborns with Inborn Errors of Metabolism

Applying our expertise to NBS is just one example of how Metabolon reveals biological insights otherwise unseen through other technologies by leveraging the Metabolon Global Discovery Panel. We are unique in our ability to extract information on a large number of diseases from a single sample and provide impactful results. This is made possible using our analytically validated metabolomics technology that adheres to Clinical Laboratory Improvement Amendments (CLIA) and College of American Pathologists (CAP) regulations and standards for clinical testing. Not only can our technology be utilized to identify rare diseases, but it can also be used to follow treatment interventions.3 Expanding metabolomics capabilities to NBS has enormous potential for researchers and patients alike.

See how Metabolon can advance your path to preclinical and clinical insights

Global Discovery Panel

Metabolon’s LC-MS global metabolomics platform provides a high-fidelity, reproducible analysis of the current-state of a biological system to help identify pharmacodynamic, efficacy and response biomarkers and reveal changes in key biological pathways. Metabolon’s unmatched chemical library and expertise identifies, tracks, and maps the different classes of metabolites and pathways that inform your study and reveal meaningful actionable insights.

Global Discovery Panel
Complex Lipids Targeted Panel

Complex Lipids Targeted Panel

Metabolon has overcome the challenges of lipid profiling to create the only platform able to provide both complete and quantitative lipidomic analysis.

Amino Acids Targeted Panel

Amino acids (AA) are the foundational building blocks for peptides and proteins. These small molecules regulate metabolic pathways that are involved in cell maintenance, growth, reproduction, and immunity. Branched chain amino acids play a large role in building muscle tissue and participate in increasing protein synthesis. Amino acids also play a role in cell signaling, gene expression and protein phosphorylation. Maintaining an optimal balance of amino acids is vital to maintaining a stable equilibrium of physiological processes.
Amino Acids Targeted Panel
Bile Acids Targeted Panel

Bile Acids Targeted Panel

Bile acids are derived from cholesterol and serve an important role in emulsifying and digesting lipids. In addition, their metabolism is intimately involved with the microbiota, and they have been shown to exhibit endocrine and metabolic activity via receptors like FXR and TGR5. The Bile Acids Targeted Panel measures all the major human and rodent primary and secondary bile acids as well as their glycine and taurine conjugates.

Metabolon in Action

Rare Disease: VLCAD Deficiency

This study demonstrates that untargeted metabolomics data from plasma can distinguish patients with a normal physiologic response to fasting versus patients with VLCAD deficiency.

Read the case study

Early Screening for Urea Cycle Disorders in Plasma

In this study, metabolomic analysis of plasma identified several new potential biomarkers of UCDs. In addition to utility in helping in the screening for UCDs, this study suggests that untargeted metabolomics of plasma samples may be beneficial for monitoring the efficacy of medical treatment. Expanding newborn screening (NBS) for UCDs and shortening the turnout time are imperative in improving the sensitivity and specificity for screening these disorders.

Read the case study

Interested in Further Studies?

Why Metabolon?

Once you see the full value of metabolomics, the only remaining question is who does it best? While many laboratories have metabolite profiling or analytical chemistry capabilities, comprehensive metabolomics technologies are extremely rare. Accurate, unbiased metabolite identification across the entire metabolome introduces signal-to-noise challenges that very few labs are equipped to handle. Also, translating massive quantities of data into actionable information is slow, if not impossible, for most because proper interpretation takes two things that are in short supply: experience and a comprehensive database.

Only Metabolon has all four core metabolomics capabilities



Ability to interrogate thousands of metabolites across diverse biochemical space, revealing new insights and opportunities



Ability to integrate the data from different studies into the same dataset, in different geographies, among different patients over time


Ability to inform on proper study design, generate high‐quality data, derive biological insights, and make actionable recommendations


Ability to process hundreds of thousands of samples quickly and cost‐efficiently to service rapidly growing demand

Partner with Metabolon to access:


A library of 5,400+ known metabolites, 2,000 in human plasma, all referenced in the context of biochemical pathways

  • That’s 5x the metabolites of the closest competitor

Unparalleled depth and breadth of experience analyzing and interpreting metabolomic data to find meaningful results

  • 10,000+ projects with hundreds of clients
  • 2,000+ publications covering 500 diseases, including numerous peer-reviewed journals such as Cell, Nature and Science
  • Nearly 40 PhDs in data science, molecular biology, and biochemistry

Using our robust platform and visualization tools, our experts are uniquely able to tell you more about your molecule and develop assay panels to help you zero in on the results you need.

Contact Us

Talk with an expert

Request a quote for our services or more information on sample types and handling procedures, need a letter of support, or simply have questions about how metabolomics can advance your research.

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This test was developed, and its performance characteristics were determined by Metabolon, Inc. It has not been cleared or approved by the U.S. Food and Drug Administration. Metabolon is regulated under the Clinical Laboratory Improvement Amendments (CLIA) and the College of American Pathologists (CAP) as an accredited laboratory to perform high-complexity clinical testing. Test results should be interpreted in conjunction with other laboratory and clinical data available to the clinician.


1. Lee KN, Uhlmann W, Hipp L, Quinonez SC. The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation. Mol Genet Metab Rep. Dec 2020;25:100653. doi:10.1016/j.ymgmr.2020.100653

2. Liu N, Xiao J, Gijavanekar C, et al. Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open. 07 01 2021;4(7):e2114155. doi:10.1001/jamanetworkopen.2021.14155

3. Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, et al. 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019;13:394. Epub 20190508. doi: 10.3389/fnins.2019.00394. PubMed PMID: 31133775; PubMed Central PMCID: PMC6517487.