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Other -omics Approaches and Their Integration for the Diagnosis and Treatment of Inborn Errors of Metabolism

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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

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Summary

Here we provide an overview of the different -omics approaches and their application and integration for the purpose of improving diagnosis and treatment of patients with inborn errors of metabolism. Given the molecular diversity of biomarkers, the high-throughput -omics technologies offer an amazing opportunity for holistic investigation and contextual pathophysiologic understanding of disease, as well as their identification and management. Phenomics, genomics, metabolomics, lipidomics, glycomics, proteomics, and transcriptomics are each important to systems medicine, but some are clear more mature than others, reflected in the varying applications as a clinically reimbursed test versus a research tool only. Generation of big data is relatively easy; the challenge lies in the integration and interpretation of these systems biology data and functional characterization and translation of the results into something clinically meaningful for our patients. Partnerships with patients and families and multidisciplinary collaboration between clinicians and researchers are essential for success in the -omics era.

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Acknowledgements

We are grateful to the patients and families for inspiring us, to our clinical and research colleagues for teaching us and collaborating with us, and finally to Ms E Ferreira (Amsterdam UMC) for her writing support.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Emma Children’s Hospital, Amsterdam University Medical Centres, Amsterdam, The Netherlands

    Clara D. M. van Karnebeek

  2. Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

    Nanda Verhoeven-Duif

Authors
  1. Clara D. M. van Karnebeek
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  2. Nanda Verhoeven-Duif
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Corresponding author

Correspondence to Clara D. M. van Karnebeek .

Editor information

Editors and Affiliations

  1. Division of Metabolism, University Children’s Hospital, Zürich, Switzerland

    Nenad Blau

  2. Division of Metabolic Disease, Department of Pediatric Subspecialties, Bambino Gesù Children’s Hospital-IRCCS, Rome, Italy

    Carlo Dionisi Vici

  3. Division of Genetics and Metabolism, Children’s National Health System, Washington, DC, USA

    Carlos R. Ferreira

  4. Department of Inborn Errors of Metabolism and Newborn Screening, CHU Lyon, Centre de Biologie et de Pathologie Est, Bron Cedex, France

    Christine Vianey-Saban

  5. Departments of Pediatrics and Human Genetics, Emma Children’s Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands

    Clara D. M. van Karnebeek

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van Karnebeek, C.D.M., Verhoeven-Duif, N. (2022). Other -omics Approaches and Their Integration for the Diagnosis and Treatment of Inborn Errors of Metabolism. In: Blau, N., Dionisi Vici, C., Ferreira, C.R., Vianey-Saban, C., van Karnebeek, C.D.M. (eds) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-67727-5_10

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  • DOI: https://doi.org/10.1007/978-3-030-67727-5_10

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-67726-8

  • Online ISBN: 978-3-030-67727-5

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