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Organic Acids

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

Abstract

Organic acid disorders (OAD) are a relevant group of inborn errors of metabolism (IEM), not only in severely ill children but in adults as well, namely, with neurological symptoms. OAD are due to defect in intermediary metabolic pathways of carbohydrate, amino acids, lipids, Krebs cycle, vitamins, and nucleic acids, leading to the accumulation in the body fluids of the so-called organic acids, the metabolic pathways’ intermediates. Analysis of organic acids profiles is a powerful tool for the IEM differential diagnosis. Herein, an updated reference guide in OAD is presented, incorporating the affected protein, the altered gene, and the organic acids with diagnostic value. Valuable clues for the correct interpretation of an organic acids profile are discussed with focus on some puzzling organic acids and on the artefacts arising from diet, gut bacterial action, drugs, and sample bacterial contamination.

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Acknowledgments

The authors deeply acknowledge the contribution of Dr. Marinus Duran to the Organic Acids chapter in the previous edition (2014, pp 761–773) of this book, on which this chapter is based.

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Authors and Affiliations

  1. Metabolism and Genetics, iMed.UL, Faculdade de Farmácia da Universidade de Lisboa, Avenida Prof. Gama Pinto, Lisboa, Portugal

    Isabel Tavares de Almeida

  2. Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clinic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain

    Antonia Ribes

Authors
  1. Isabel Tavares de Almeida
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  2. Antonia Ribes
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Correspondence to Isabel Tavares de Almeida .

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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Tavares de Almeida, I., Ribes, A. (2022). Organic Acids. 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_4

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  • DOI: https://doi.org/10.1007/978-3-030-67727-5_4

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-67726-8

  • Online ISBN: 978-3-030-67727-5

  • eBook Packages: MedicineMedicine (R0)

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