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. 2020 Jun 10;10:9382. doi: 10.1038/s41598-020-66401-2

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Investigational algorithm for IEM using metabolomics testing. Individuals identified through NBS programs or those with specific IEM features are diagnosed by selected targeted assays and confirmed through gene sequencing. In some cases, WES complemented by functional studies, such as enzyme activity measurement, may be required. Individuals with non-specific IEM phenotypes investigated through broad-spectrum targeted metabolomics prior to further investigation through gene panels. In some cases, WES may be warranted with complementary functional studies. Individuals with broad, non-specific (non-IEM), neurometabolic phenotypes investigated by WES as a front-line investigation. It is possible that such patients may benefit from GUM analysis when VUS are discovered by WES, requiring validation. In addition to metabolomics testing, functional characterization studies (such as enzyme activity measurement or flux studies) should be utilized, where appropriate³¹.