Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2009 Aug;32(4):498-505.
doi: 10.1007/s10545-009-1126-8. Epub 2009 Apr 28.

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

U Spiekerkoetter  1 , 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
Affiliations
Multicenter Study

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

U Spiekerkoetter et al. J Inherit Metab Dis. 2009 Aug.

Abstract

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Pediatr Res. 2008 Jun;63(6):632-7 - PubMed
    1. Mol Genet Metab. 2006 Sep-Oct;89(1-2):58-63 - PubMed
    1. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):343-4 - PubMed
    1. J Am Diet Assoc. 2002 Dec;102(12):1800-3 - PubMed
    1. Am J Hum Genet. 2007 Dec;81(6):1133-43 - PubMed

Publication types

MeSH terms

LinkOut - more resources