1 |
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, et al. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab 2015;116:139-45.
DOI
|
2 |
Boneh A, Andresen BS, Gregersen N, Ibrahim M, Tzanakos N, Peters H, et al. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab 2006; 88:166-70.
DOI
|
3 |
Hesse J, Braun C, Behringer S, Matysiak U, Spiekerkoetter U, Tucci S. The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD). J Inherit Metab Dis 2018;41:1169-78.
DOI
|
4 |
Bonnefont JP, Bastin J, Laforet P, Aubey F, Mogenet A, Romano S, et al. Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency. Clin Pharmacol Ther 2010;88:101-8.
DOI
|
5 |
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, et al. Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidenceand consensus-based approach. Mol Genet Metab 2020;131:23-37.
DOI
|
6 |
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, et al. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis 2009;32:498-505.
DOI
|
7 |
Bleeker JC, Kok IL, Ferdinandusse S, de Vries M, Derks TGJ, Mulder MF, et al. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2019;42:159-68.
DOI
|
8 |
Leslie ND, Valencia CA, Strauss AW, Zhang K. Very long-chain acyl-coenzyme A dehydrogenase deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, eds. GeneReviews®[Internet]. University of Washington, Seatle, 2021;1993-2022.
|
9 |
Wanders RJ, Vreken P, den Boer ME, Wijburg FA, van Gennip AH, L IJlst. Disorders of mitochondrial fatty acyl-CoA beta-oxidation. J Inherit Metab Dis 1999;22:442-87.
DOI
|
10 |
Diekman EF, Ferdinandusse S, van der Pol L, Waterham HR, Ruiter JPN, Ijlst L, et al. Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. Genet Med 2015;17:989-94.
DOI
|
11 |
Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, et al. Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial. J Inherit Metab Dis 2017;40:831-43.
DOI
|
12 |
Yamada K, Shiraishi H, Oki E, Ishige M, Fukao T, Hamada Y, et al. Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan. Mol Genet Metab Rep 2018;15:55-63.
DOI
|
13 |
Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003;348:2304-12.
DOI
|
14 |
Eaton S, Bartlett K, Pourfarzam M. Mammalian mitochondrial beta-oxidation. Biochem J 1996;320(Pt 2)(Pt 2):345-57.
DOI
|
15 |
Egan B, Zierath JR. Exercise metabolism and the molecular regulation of skeletal muscle adaptation. Cell Metab 2013;17:162-84.
DOI
|
16 |
Pervaiz MA, Kendal F, Hegde M, Singh RH. MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. Indian J Hum Genet 2011;17:29-32.
DOI
|
17 |
Hoffmann L, Haussmann U, Mueller M, Spiekerkoetter U. VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. J Inherit Metab Dis 2012;35:269-77.
DOI
|
18 |
Reddy JK, Hashimoto T. Peroxisomal beta-oxidation and peroxisome proliferator-activated receptor alpha: an adaptive metabolic system. Annu Rev Nutr 2001;21:193-230.
DOI
|
19 |
Lopaschuk GD, Ussher JR, Folmes CD, Jaswal JS, Stanley WC. Myocardial fatty acid metabolism in health and disease. Physiol Rev 2010;90:207-58.
DOI
|
20 |
Olpin SE, Manning NJ, Pollitt RJ, Clarke S. Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid. J Inherit Metab Dis 1997;20:415-9.
DOI
|
21 |
van den Berghe G. The role of the liver in metabolic homeostasis: implications for inborn errors of metabolism. J Inherit Metab Dis 1991;14:407-20.
DOI
|
22 |
Bonnet D, Martin D, Lonlay PD, Villain E, Jouvet P, Rabier D, et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 1999;100:2248-53.
DOI
|
23 |
Pena LDM, van Calcar SC, Hansen J, Edick MJ, Vockley CW, Leslie N, et al. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Mol Genet Metab 2016;118: 272-81.
DOI
|
24 |
Zhang R-N, Li Y-F, Qiu W-J, Ye J, Han L-S, Zhang H-W, et al. Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency. World J Pediatr 2014; 10:119-25.
DOI
|
25 |
Laforet P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, et al. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord 2009;19:324-9.
DOI
|
26 |
Merinero B, Alcaide P, Martin-Hernandez E, Morais A, Garcia-Silva MT, Quijada-Fraile P, et al. Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. JIMD Rep 2018;39:63-74.
|
27 |
Katz S, Landau Y, Pode-Shakked B, Pessach IM, Rubinshtein M, Anikster Y, et al. Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature. Mol Genet Metab Rep 2016;10:5-7.
DOI
|
28 |
McHugh DMS, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 2011; 13:230-54.
DOI
|
29 |
Manning NJ, Olpin SE, Pollitt RJ, Webley J. A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inherit Metab Dis 1990;13:58-68.
DOI
|
30 |
Behrend AM, Harding CO, Shoemaker JD, Matern D, Sahn DJ, Elliot DL, et al. Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation. Mol Genet Metab 2012;105:110-5.
DOI
|
31 |
Gnoni A, Longo S, Gnoni GV, Giudetti AM. Carnitine in Human Muscle Bioenergetics: Can Carnitine Supplementation Improve Physical Exercise? Molecules 2020;25:182.
DOI
|
32 |
Primassin S, Veld FT, Mayatepek E, Spiekerkoetter U. Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine. Pediatr Res 2008;63:632-7.
DOI
|
33 |
Orngreen MC, Madsen KL, Preisler N, Andersen G, Vissing J, Laforet P. Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial. Neurology 2014;82:607-13.
DOI
|