ArticleJournal of inherited metabolic disease2012
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.
Article in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.Journal of inherited metabolic disease · 2026Article
- 2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions.Orphanet journal of rare diseases · 2026Article
- Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.Journal of inherited metabolic disease · 2025Article
- Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.BMC pediatrics · 2024Article
- Developments in evidence creation for treatments of inborn errors of metabolism.Journal of inherited metabolic disease · 2021Review
- Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.Orphanet journal of rare diseases · 2020Review
- Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.Orphanet journal of rare diseases · 2019Article
- Article
- Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.JIMD reports · 2017Article
- Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.Journal of inherited metabolic disease · 2015Article
- Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.World journal of pediatrics : WJP · 2014Article
- Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder.American journal of physiology. Endocrinology and metabolism · 2013Article
- Carnitine supplementation attenuates myocardial lipid accumulation in long-chain acyl-CoA dehydrogenase knockout mice.Journal of inherited metabolic disease · 2013Article
- Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Review
- Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.JIMD reports · 2013Article
- Clinical practice and the development of evidence.Journal of inherited metabolic disease · 2012Article
- An Introduction to Pharmacotherapy for Inborn Errors of Metabolism.The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAGReview
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThere is little robust empirical evidence on which to base treatment recommendations for fatty acid oxidation disorders. While consensus guidelines are important, understanding areas where there is a lack of consensus is also critical to inform priorities for future evaluative research.
methodsWe surveyed Canadian metabolic physicians on the treatment of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, and mitochondrial trifunctional protein (MTP) deficiency. We ascertained physicians' opinions on the use of different interventions for the long-term management of patients as well as for the management of acute illness, focusing on identifying interventions characterized by high variability in opinions. We also investigated factors influencing treatment decisions.
resultsWe received 18 responses (response rate 45%). Participants focused on avoidance of fasting and increased meal frequency as interventions for the management of MCAD deficiency. For the long-chain disorders, avoidance of fasting remained the most consistently endorsed intervention, with additional highly endorsed treatments differing for VLCAD versus LCHAD/MTP deficiency. L-carnitine supplementation and restriction of dietary fat were characterized by high variability in physicians' opinions, as were several interventions specific to long-chain disorders. Social factors and patient characteristics were important influences on treatment decisions.
conclusionsBased on our findings we suggest that high priority treatments for rigorous effectiveness studies could include L-carnitine supplementation (MCAD and LCHAD/MTP deficiencies), restriction of dietary fat, and, for the long-chain disorders, feeding practices for breastfed infants and the use of various supplements (essential fatty acids, carbohydrates, cornstarch, multivitamins).
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