Variability in the clinical management of fatty acid oxidation disorders: Results of a survey of Canadian metabolic physicians

Journal of Inherited Metabolic Disease

Volumn 35, Issue 1, 2012, Pages 115-123

  Potter, Beth K ^a   Little, Julian ^a   Chakraborty, Pranesh ^b   Kronick, Jonathan B ^c   Evans, Jessica ^a   Frei, Julia ^a   Sutherland, Sarah C ^a   Wilson, Kumanan ^d   Wilson, Brenda J ^a  

^a UNIVERSITY OF OTTAWA   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c DALHOUSIE UNIVERSITY   (Canada)

^d OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE;

ARTICLE; CLINICAL DECISION MAKING; CLINICAL PRACTICE; DIET SUPPLEMENTATION; DIET THERAPY; DISORDERS OF CHOLESTEROL METABOLISM; FATTY ACID OXIDATION; HEALTH SURVEY; HUMAN; INTERVENTION STUDY; LONG CHAIN 3 HYDROXYACYL COENZYME DEHYDROGENASE; LOW FAT DIET; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; PHYSICIAN ATTITUDE; PROTEIN DEFICIENCY; SOCIAL ASPECT; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

3-HYDROXYACYL COA DEHYDROGENASES; ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASE, LONG-CHAIN; CANADA; CARNITINE; DIETARY FATS; FATTY ACIDS; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HUMANS; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MULTIENZYME COMPLEXES; MUSCULAR DISEASES; OXYGEN; QUESTIONNAIRES;

EID: 84863312655     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9352-2     Document Type: Article

References (25)

1. Arnold GL, VanHove J, Freedenberg D et al. (2009) A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96:85-90
2. Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA et al. (2010) Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. Mol Genet Metab 99:263-268
3. Clancy C, Collins FS (2010) Patient-centred outcomes research institute: the intersection of science and health care. Sci Transl Med 2:37cm18
4. Dillman DA (2007) Mail and Internet Surveys. The Tailored Design Method. 2nd ed, 2007 update. New York: Wiley, Inc
5. Djouadi F, Aubey F, Schlemmer D et al. (2005) Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. Hum Mol Genet 14:2695-2703
6. Djouadi F, Aubey F, Schlemmer D et al. (2006) Potential of fibrates in the treatment of fatty acid oxidation disorders: revival of classical drugs? J Inherit Metab Dis 29:341-342
7. Gillingham MB, Scott B, Elliott D, Harding CO (2006) Metabolic control during exercise with and withoutmedium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab 89:58-63
8. Gillingham MB, Purnell JQ, Jordan J, Stadler D, Haqq AM, Harding CO (2007) Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3- hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab 90:64-69
9. Griggs RC, Batshaw M, Dunkle M et al. (2009) For the rare diseases clinical research network, Clinical research for rare disease: Opportunities, challenges, and solutions. Mol Genet Metab 96:20-26
10. Kemper AR, Boyle CA, Aceves J et al. (2008) Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Genet Med 10:259-261
11. Laforêt P, Vianey-Saban C (2010) Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromuscul Disord 20:693-700
12. Leonard JV (2006) Komrower lecture: Treatment of inborn errors of metabolism: A review. J Inherit Metab Dis 29:275-278
13. Nasser M, Javaheri H, Fedorowicz Z, Noorani Z (2009) Carnitine supplementation for inborn errors of metabolism. Cochrane Database of Systematic Reviews. Issue 2. CD006659
14. Roe CR, Sweetman L, Roe DS, David F, Brunengraber H (2002) Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest 110:259-269
15. Roe CR, Roe DS, Wallace M, Garritson B (2007) Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders. Mol Genet Metab 92:346-350
16. Solis JO, Singh RH (2002) Management of fatty acid oxidation disorders: a survey of current treatment strategies. J Am Diet Assoc 102:1800-1803
17. Spiekerkoetter U, Lindner M, Santer R et al. (2009a) Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis 32:498-505
18. Spiekerkoetter U, Lindner M, Santer R et al. (2009b) Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis 32:488-497
19. Spiekerkoetter U, Bastin J, Gillingham M, Morris A, Wijburg F, Wilcken B (2010) Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. J Inherit Metab Dis 33:555-561
20. Steiner RD (2005) Evidence based medicine in inborn errors of metabolism: Is there any and how to find it. Am J Med Genet 134A:192-197
21. VanGeest JB, Johnson TP, Welc VL (2007) Methodologies for improving response rates in surveys of physicians: A systematic review. Eval Health Prof 30:303-321
22. Vockley J, Vockley CMW (2010) Clinical trials: Curing a critical deficiency in metabolic medicine. Mol Genet Metab 99:244-245
23. Walter JH (2003) L-carnitine in inborn errors of metabolism: what is the evidence? J Inherit Metab Dis 26:181-188
24. Wilcken B (2010) Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis 33:501-506
25. Wilcken B, Haas M, Joy P et al. (2007) Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 369:37-42