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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Summary

Published data on treatment of fatty acid oxidation defects are scarce. Treatment recommendations have been developed on the basis of observations in 75 patients with long-chain fatty acid oxidation defects from 18 metabolic centres in Central Europe. Recommendations are based on expert practice and are suggested to be the basis for further multicentre prospective studies and the development of approved treatment guidelines. Considering that disease complications and prognosis differ between different disorders of long-chain fatty acid oxidation and also depend on the severity of the underlying enzyme deficiency, treatment recommendations have to be disease-specific and depend on individual disease severity. Disorders of the mitochondrial trifunctional protein are associated with the most severe clinical picture and require a strict fat-reduced and fat-modified (medium-chain triglyceride-supplemented) diet. Many patients still suffer acute life-threatening events or long-term neuropathic symptoms despite adequate treatment, and newborn screening has not significantly changed the prognosis for these severe phenotypes. Very long-chain acyl-CoA dehydrogenase deficiency recognized in neonatal screening, in contrast, frequently has a less severe disease course and dietary restrictions in many patients may be loosened. On the basis of the collected data, recommendations are given with regard to the fat and carbohydrate content of the diet, the maximal length of fasting periods and the use of l-carnitine in long-chain fatty acid oxidation defects.

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Abbreviations

DHA:

docosahexanoic acid

LCHAD(D):

long-chain 3-hydroxy-acyl-CoA dehydrogenase (deficiency)

LCT:

long-chain triglycerides (long-chain fat)

MCT:

medium-chain triglycerides

MS/MS:

tandem mass spectrometry

TFP(D):

mitochondrial trifunctional protein (deficiency)

VLCAD(D):

very long-chain acyl-CoA dehydrogenase (deficiency)

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Acknowledgements

This article presents results arising from a workshop on long-chain fatty acid oxidation disorders sponsored by Milupa Metabolics. The authors thank the other participants of the study group.

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Authors and Affiliations

  1. Department of General Pediatrics, University Children’s Hospital, Moorenstr. 5, 40225, Düsseldorf, Germany

    U. Spiekerkoetter, M. Grotzke, E. Mayatepek & U. Wendel

  2. Department of Pediatrics, University Children’s Hospital, Heidelberg, Germany

    M. Lindner

  3. Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    R. Santer

  4. Department of Pediatrics, University Children’s Hospital, Zürich, Switzerland

    M. R. Baumgartner

  5. Department of Pediatrics, University Children’s Hospital, Frankfurt, Germany

    H. Boehles

  6. Department of Pediatrics, University Children’s Hospital, Hannover, Germany

    A. Das

  7. Department of Pediatrics, University Children’s Hospital, Jena, Germany

    C. Haase

  8. Otto-Heubner-Center for Pediatric and Adolescent Medicine, Charité Universitätsmedizin, Berlin, Germany

    J. B. Hennermann

  9. Department of Pediatrics, University Children’s Hospital, Innsbruck, Austria

    D. Karall

  10. Department of Pediatrics, University of Rotterdam, Rotterdam, The Netherlands

    H. de Klerk

  11. Department of Pediatrics, University Children’s Hospital, Erlangen, Germany

    I. Knerr

  12. Department of Pediatrics, University Children’s Hospital, Münster and Children’s Hospital, Braunschweig, Germany

    H. G. Koch

  13. Department of Pediatrics, University Children’s Hospital, Graz, Austria

    B. Plecko

  14. Department of Pediatrics, University Children’s Hospital, Münich, Germany

    W. Röschinger

  15. Department of Pediatrics, University Children’s Hospital, Freiburg, Germany

    K. O. Schwab

  16. Children’s Hospital, Reutlingen, Germany

    D. Scheible

  17. Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands

    F. A. Wijburg

  18. Human Genetics and Clinical Genetics, Medical University Innsbruck, Innsbruck, Austria

    J. Zschocke

Authors
  1. U. Spiekerkoetter
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  2. M. Lindner
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  3. R. Santer
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  4. M. Grotzke
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  5. M. R. Baumgartner
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  6. H. Boehles
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  7. A. Das
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  8. C. Haase
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  9. J. B. Hennermann
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  10. D. Karall
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  11. H. de Klerk
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  12. I. Knerr
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  13. H. G. Koch
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  14. B. Plecko
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  15. W. Röschinger
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  16. K. O. Schwab
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  17. D. Scheible
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  18. F. A. Wijburg
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  19. J. Zschocke
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  20. E. Mayatepek
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  21. U. Wendel
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Corresponding author

Correspondence to U. Spiekerkoetter.

Additional information

Communicating editor: Bridget Wilcken

Competing interests: None declared

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Spiekerkoetter, U., Lindner, M., Santer, R. et al. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis 32, 498–505 (2009). https://doi.org/10.1007/s10545-009-1126-8

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  • DOI: https://doi.org/10.1007/s10545-009-1126-8

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