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Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia

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Book cover Nutrition Management of Inherited Metabolic Diseases

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Abstract

  • Infants with propionic acidemia (PROP) or methylmalonic acidemia (MMA) can be identified by newborn screening, although those with severe phenotypes may present with symptoms of metabolic ketoacidosis before screening results are available.

  • Nutrition management of PROP or MMA involves limiting intact protein and providing a medical food free of the propiogenic amino acids methionine, threonine, valine, and isoleucine.

  • Providing sufficient energy to prevent catabolism, especially during periods of illness, is a key component of therapy.

  • Individualized therapy is based on the severity of disease as well as monitoring of metabolic and nutrition parameters.

  • Treatment often includes L-carnitine supplementation for both disorders and hydroxocobalamin in MMA.

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Author information

Authors and Affiliations

  1. Department of Molecular and Medical Genetics and Graduate Programs in Human Nutrition, School of Medicine, Oregon Health and Science University, 3181 S.W. Sam Jackson Park Rd., Portland, OR, 97239-3098, USA

    Sandy van Calcar PhD, RDN, LDN

Authors
  1. Sandy van Calcar PhD, RDN, LDN
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Correspondence to Sandy van Calcar PhD, RDN, LDN .

Editor information

Editors and Affiliations

  1. Clinical Genetics and Metabolism, Children’s Hospital Colorado, University of Colorado Denver – Anschutz Medical Campus, Aurora, Colorado, USA

    Laurie E. Bernstein

  2. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, USA

    Fran Rohr

  3. Clinical Genetics and Metabolism, University of Colorado Denver, Children’s Hospital Colorado, Aurora, Colorado, USA

    Joanna R. Helm

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© 2015 Springer International Publishing Switzerland

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van Calcar, S. (2015). Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia. In: Bernstein, L., Rohr, F., Helm, J. (eds) Nutrition Management of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-14621-8_20

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  • DOI: https://doi.org/10.1007/978-3-319-14621-8_20

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-14620-1

  • Online ISBN: 978-3-319-14621-8

  • eBook Packages: MedicineMedicine (R0)

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