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Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism

  • Chapter
Inborn Metabolic Diseases

Zusammenfassung

Fatty acid oxidation disorders have a high incidence, particularly in populations of European origin. Many countries now have newborn screening programs for these disorders. Before screening was introduced, the commonest clinical presentations were hypoketotic hypoglycaemia and sudden death, usually precipitated by an infection or fasting in the neonatal period or early childhood. Older children or adults may present with exercise-induced rhabdomyolysis. Patients can remain asymptomatic throughout life if they have mild defects and are not exposed to the necessary stress. Treatment should be tailored to the severity of the disorder. This chapter also considers defects of riboflavin metabolism and transport, including Brown-Vialetto-van Laere syndrome.

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Author information

Authors and Affiliations

  1. Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, University of Manchester, Oxford Road, M13 9WL, Manchester, UK

    Andrew A. M. Morris

  2. Department of Pediatrics, Adolescent Medicine and Neonatology, Albert Ludwigs University Freiburg, University Children’s Hospital, Mathildenstr. 1, 79106, Freiburg, Germany

    Ute Spiekerkoetter

Authors
  1. Andrew A. M. Morris
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  2. Ute Spiekerkoetter
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Corresponding authors

Correspondence to Andrew A. M. Morris or Ute Spiekerkoetter .

Editor information

Editors and Affiliations

  1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  4. Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

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Morris, A.A.M., Spiekerkoetter, U. (2016). Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_12

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  • DOI: https://doi.org/10.1007/978-3-662-49771-5_12

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-49769-2

  • Online ISBN: 978-3-662-49771-5

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