title: Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.
abstract: BACKGROUND
  There 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.
  
  
  METHODS
  We 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.
  
  
  RESULTS
  We 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.
  
  
  CONCLUSIONS
  Based 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).
authors.affiliation: Department of Epidemiology & Community Medicine, University of Ottawa, 451 Smyth Rd, Ottawa, Ontario, Canada. bpotter@uottawa.ca
authors.forename: Beth K
authors.initials: BK
authors.lastname: Potter
authors.forename: Julian
authors.initials: J
authors.lastname: Little
authors.forename: Pranesh
authors.initials: P
authors.lastname: Chakraborty
authors.forename: Jonathan B
authors.initials: JB
authors.lastname: Kronick
authors.forename: Jessica
authors.initials: J
authors.lastname: Evans
authors.forename: Julia
authors.initials: J
authors.lastname: Frei
authors.forename: Sarah C
authors.initials: SC
authors.lastname: Sutherland
authors.forename: Kumanan
authors.initials: K
authors.lastname: Wilson
authors.forename: Brenda J
authors.initials: BJ
authors.lastname: Wilson
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency; D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency; D002170:Canada; D002331:Carnitine / Q000627:therapeutic use; D000080984:Congenital Bone Marrow Failure Syndromes; D004041:Dietary Fats; D005227:Fatty Acids / Q000378:metabolism*; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy*; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D028361:Mitochondrial Diseases / Q000628:therapy; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency; D009135:Muscular Diseases / Q000628:therapy; D010100:Oxygen / Q000737:chemistry*; D011795:Surveys and Questionnaires
chemical_list: D004041:Dietary Fats; D005227:Fatty Acids; D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D063991:Mitochondrial Trifunctional Protein; D002331:Carnitine; D010100:Oxygen