Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

Ute Spiekerkoetter, Jean Bastin, Melanie Gillingham, Andrew Morris, Frits Wijburg, Bridget Wilcken

Research output: Contribution to journalArticle

66 Citations (Scopus)

Abstract

Treatment recommendations in mitochondrial fatty acid oxidation (FAO) defects are diverse. With implementation of newborn screening and identification of asymptomatic patients, it is necessary to define whom to treat and how strictly. We here discuss critical questions that are currently under debate. For some asymptomatic long-chain defects, long-chain fat restriction plays a minor role, and a normal diet may be introduced. For patients presenting only with myopathic symptoms, e.g., during exercise, treatment may be adapted to energy demand. As a consequence, patients with exercise-induced myopathy may be able to return to normal activity when provided with medium-chain triglycerides (MCT) prior to exercise. There is no need to limit participation in sports. Progression of retinopathy in disorders of the mitochondrial trifunctional protein complex is closely associated with hydroxyacylcarnitine accumulation. A strict low-fat diet with MCT supplementation is recommended to slow or prevent progression of chorioretinopathy. Additional docosahexanoic acid does not prevent the decline in retinal function but does promote nonspecific improvement in visual acuity and is recommended. There is no evidence that L-carnitine supplementation is beneficial. Thus, supplementation with L-carnitine in a newborn identified by screening with either a medium-chain or long-chain defect is not supported. With respect to the use of the odd-chain medium-chain triglyceride triheptanoin in myopathic phenotypes, randomized trials are needed to establish whether triheptanoin is more effective than even-chain MCT. With increasing pathophysiological knowledge, new treatment options have been identified and are being clinically evaluated. These include the use of bezafibrates in myopathic long-chain defects.

Original languageEnglish (US)
Pages (from-to)555-561
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume33
Issue number5
DOIs
StatePublished - Oct 2010

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Triglycerides
Fatty Acids
Carnitine
Exercise
Mitochondrial Trifunctional Protein
Newborn Infant
Bezafibrate
Fat-Restricted Diet
Muscular Diseases
Therapeutics
Visual Acuity
Sports
Fats
Diet
Phenotype
Acids
triheptanoin

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. / Spiekerkoetter, Ute; Bastin, Jean; Gillingham, Melanie; Morris, Andrew; Wijburg, Frits; Wilcken, Bridget.

In: Journal of Inherited Metabolic Disease, Vol. 33, No. 5, 10.2010, p. 555-561.

Research output: Contribution to journalArticle

Spiekerkoetter, Ute ; Bastin, Jean ; Gillingham, Melanie ; Morris, Andrew ; Wijburg, Frits ; Wilcken, Bridget. / Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. In: Journal of Inherited Metabolic Disease. 2010 ; Vol. 33, No. 5. pp. 555-561.
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