Journal of Inherited Metabolic Disease

, Volume 32, Issue 4, pp 498–505

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

  • U. Spiekerkoetter
  • M. Lindner
  • R. Santer
  • M. Grotzke
  • M. R. Baumgartner
  • H. Boehles
  • A. Das
  • C. Haase
  • J. B. Hennermann
  • D. Karall
  • H. de Klerk
  • I. Knerr
  • H. G. Koch
  • B. Plecko
  • W. Röschinger
  • K. O. Schwab
  • D. Scheible
  • F. A. Wijburg
  • J. Zschocke
  • E. Mayatepek
  • U. Wendel
Original Article

DOI: 10.1007/s10545-009-1126-8

Cite this article as:
Spiekerkoetter, U., Lindner, M., Santer, R. et al. J Inherit Metab Dis (2009) 32: 498. doi:10.1007/s10545-009-1126-8

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.

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)

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • U. Spiekerkoetter
    • 1
  • M. Lindner
    • 2
  • R. Santer
    • 3
  • M. Grotzke
    • 1
  • M. R. Baumgartner
    • 4
  • H. Boehles
    • 5
  • A. Das
    • 6
  • C. Haase
    • 7
  • J. B. Hennermann
    • 8
  • D. Karall
    • 9
  • H. de Klerk
    • 10
  • I. Knerr
    • 11
  • H. G. Koch
    • 12
  • B. Plecko
    • 13
  • W. Röschinger
    • 14
  • K. O. Schwab
    • 15
  • D. Scheible
    • 16
  • F. A. Wijburg
    • 17
  • J. Zschocke
    • 18
  • E. Mayatepek
    • 1
  • U. Wendel
    • 1
  1. 1.Department of General PediatricsUniversity Children’s HospitalDüsseldorfGermany
  2. 2.Department of PediatricsUniversity Children’s HospitalHeidelbergGermany
  3. 3.Department of PediatricsUniversity Medical Center Hamburg-EppendorfHamburgGermany
  4. 4.Department of PediatricsUniversity Children’s HospitalZürichSwitzerland
  5. 5.Department of PediatricsUniversity Children’s HospitalFrankfurtGermany
  6. 6.Department of PediatricsUniversity Children’s HospitalHannoverGermany
  7. 7.Department of PediatricsUniversity Children’s HospitalJenaGermany
  8. 8.Otto-Heubner-Center for Pediatric and Adolescent MedicineCharité UniversitätsmedizinBerlinGermany
  9. 9.Department of PediatricsUniversity Children’s HospitalInnsbruckAustria
  10. 10.Department of PediatricsUniversity of RotterdamRotterdamThe Netherlands
  11. 11.Department of PediatricsUniversity Children’s HospitalErlangenGermany
  12. 12.Department of PediatricsUniversity Children’s Hospital, Münster and Children’s HospitalBraunschweigGermany
  13. 13.Department of PediatricsUniversity Children’s HospitalGrazAustria
  14. 14.Department of PediatricsUniversity Children’s HospitalMünichGermany
  15. 15.Department of PediatricsUniversity Children’s HospitalFreiburgGermany
  16. 16.Children’s HospitalReutlingenGermany
  17. 17.Department of PediatricsUniversity of AmsterdamAmsterdamThe Netherlands
  18. 18.Human Genetics and Clinical GeneticsMedical University InnsbruckInnsbruckAustria