| ID |
Reference |
| G.139 |
(2015 July 15): Summary: Reports from several clinics on how they treat mild VLCAD patients. [Electronic mailing list message]. Retrieved from PNO-METAB-L, Archives. |
| F.9 |
Arnold, G.L., Van Hove, J., Freedenberg, D., Strauss, A., Longo, N., Burton, B., Garganta, C., Ficicioglu, C., Cederbaum, S., Harding, C., Boles, R.G., Matern, D., Chakraborty, P., & Feigenbaum, A. (Mar 2009). A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol. Genet. Metab., 96, 85-90. doi:10.1016/j.ymgme.2008.09.008 |
| F.3962 |
Ørngreen, M.C. (Jul 2016). Substrate kinetics in patients with disorders of skeletal muscle metabolism. Dan Med J, 63(7):. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/27399985 |
| F.3963 |
Ørngreen, M.C., Madsen, K.L., Preisler, N., Andersen, G., Vissing, J., & Laforêt, P. (Feb 2014). Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial. Neurology, 82, 607-13. doi:10.1212/WNL.0000000000000118 |
| F.4363 |
ØRngreen, M.C., Nørgaard, M.G., Sacchetti, M., van Engelen, B.G., & Vissing, J. (Aug 2004). Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency. Ann. Neurol., 56, 279-83. doi:10.1002/ana.20168 |
| F.4377 |
Ørngreen, M.C., Nørgaard, M.G., van Engelen, B.G., Vistisen, B., & Vissing, J. (Jul 2007). Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency. Neurology, 69, 313-5. doi:10.1212/01.wnl.0000265854.41013.84 |
| F.3964 |
Ørngreen, M.C., Vissing, J., & Laforét, P. (Mar 2015). No effect of bezafibrate in patients with CPTII and VLCAD deficiencies. J. Inherit. Metab. Dis., 38, 373-4. doi:10.1007/s10545-014-9779-3 |
| F.4379 |
Bastin, J., Bonnefont, J.P., Djouadi, F., & Bresson, J.L. (Mar 2015). Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned?. J. Inherit. Metab. Dis., 38, 371-2. doi:10.1007/s10545-014-9775-7 |
| G.144 |
Bausell H., Kim K. & Burton B. (2017). Intravenous Sources of Medium Chain Triglycerides for Critically Ill Patients with Fatty Acid Oxidation Disorders. 13thInternational Congress of Inborn Errors of Metabolism (ICIEM) #201. |
| F.659 |
Behrend, A.M., Harding, C.O., Shoemaker, J.D., Matern, D., Sahn, D.J., Elliot, D.L., & Gillingham, M.B. (Jan 2012). Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation. Mol. Genet. Metab., 105, 110-5. doi:10.1016/j.ymgme.2011.09.030 |
| F.654 |
Boles, R.G. (Aug 2002). Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly. J. Inherit. Metab. Dis., 25(4):315-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12227461 |
| F.18 |
Brown-Harrison, M.C., Nada, M.A., Sprecher, H., Vianey-Saban, C., Farquhar, J., Gilladoga, A.C., & Roe, C.R. (Jun 1996). Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy. Biochem. Mol. Med., 58(1):59-65. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8809347 |
| F.4371 |
Burrage, L.C., Miller, M.J., Wong, L.J., Kennedy, A.D., Sutton, V.R., Sun, Q., Elsea, S.H., & Graham, B.H. (Feb 2016). Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J. Pediatr., 169, 208-13.e2. doi:10.1016/j.jpeds.2015.10.045 |
| F.4380 |
Cairns, A.P., O'Donoghue, P.M., Patterson, V.H., & Brown, J.H. (Aug 2000). Very-long-chain acyl-coenzyme A dehydrogenase deficiency--a new cause of myoglobinuric acute renal failure. Nephrol. Dial. Transplant., 15(8):1232-4. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10910451 |
| F.633 |
Cox, G.F., Souri, M., Aoyama, T., Rockenmacher, S., Varvogli, L., Rohr, F., Hashimoto, T., & Korson, M.S. (Aug 1998). Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. J. Pediatr., 133(2):247-53. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9709714 |
| F.4382 |
Dereddy, N.R., Kronn, D., & Krishnan, U. (Sep 2009). Defects in long chain fatty acid oxidation presenting as severe cardiomyopathy and cardiogenic shock in infancy. Cardiol Young, 19, 540-2. doi:10.1017/S104795110999134X |
| F.4234 |
Diekman, E.F., Ferdinandusse, S., van der Pol, L., Waterham, H.R., Ruiter, J.P., Ijlst, L., Wanders, R.J., Houten, S.M., Wijburg, F.A., Blank, A.C., Asselbergs, F.W., Houtkooper, R.H., & Visser, G. (Dec 2015). Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. Genet. Med., 17, 989-94. doi:10.1038/gim.2015.22 |
| F.4235 |
Diekman, E.F., van der Pol, W.L., Nievelstein, R.A., Houten, S.M., Wijburg, F.A., & Visser, G. (May 2014). Muscle MRI in patients with long-chain fatty acid oxidation disorders. J. Inherit. Metab. Dis., 37, 405-13. doi:10.1007/s10545-013-9666-3 |
| F.4236 |
Diekman, E.F., Visser, G., Schmitz, J.P., Nievelstein, R.A., de Sain-van der Velden, M., Wardrop, M., Van der Pol, W.L., Houten, S.M., van Riel, N.A., Takken, T., & Jeneson, J.A. (2016). Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency. PLoS ONE, 11, e0147818. doi:10.1371/journal.pone.0147818 |
| F.4383 |
Divry, P., Vianey-Saban, C., & Mathieu, M. (May 1999). Determination of total fatty acids in plasma: cis-5-tetradecenoic acid (C14:1 omega-9) in the diagnosis of long-chain fatty acid oxidation defects. J. Inherit. Metab. Dis., 22(3):286-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10384388 |
| F.14 |
Doi, T., Abo, W., Tateno, M., Hayashi, K., Hori, T., Nakada, T., Fukao, T., Takahashi, Y., & Terada, N. (Dec 2000). Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy. Eur. J. Pediatr., 159(12):908-11. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11131350 |
| F.624 |
Engbers, H.M., Dorland, L., de Sain, M.G., Eskes, P.F., & Visser, G. (2005). Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting. J. Inherit. Metab. Dis., 28, 1151-2. doi:10.1007/s10545-005-0190-y |
| F.4375 |
Evans, M., Andresen, B.S., Nation, J., & Boneh, A. (08 2016). VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. Mol. Genet. Metab., 118, 282-7. doi:10.1016/j.ymgme.2016.05.012 |
| F.4 |
Ficicioglu, C., & Hussa, C. (Dec 2009). Very long-chain acyl-CoA dehydrogenase deficiency: the effects of accidental fat loading in a patient detected through newborn screening. J. Inherit. Metab. Dis., 32 Suppl 1, S187-90. doi:10.1007/s10545-009-1143-7 |
| G.123 |
Gillingham M & van Calcar S. (4/20/16). Biochemistry and Management of Fatty Acid Oxidation Disorders: From Infancy to Adulthood. Nutricia Metabolics Webinar Series. Nutricia Learning Center, Nutricia North America, Gaithersburg, MD. |
| G.28 |
Gillingham MB. (2009). Nutrition Management of Patients with Inherited of Mitochondrial Fatty Acid Oxidation. In P. Acosta (Ed.), Nutrition Management of Patients with Inherited Metabolic Disorders (pp 369-403). Sudbury, Massachusetts: Jones & Bartlett Learning. |
| G.133 |
Gillingham MB. (2012). Interpreting Essential Fatty Acid Profiles. Powerpoint presentation at Metabolic University-MU2, Denver, Colorado. |
| G.127 |
Gillingham MG (2015). Nutrition Studies in Long-Chain Fatty Acid Oxidation Disorders: Diet Composition and Monitoring. In LE. Bernstein et al. (Eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University (pp 255-270). Switzerland, Springer International Publishing. |
| G.135 |
Gillingham, M. (2017, February 17). Summary: Free carnitine levels influence on acylcarnitine levels. [Electronic mailing list message]. Retrieved from PNO-METAB-L, Archives. |
| F.4424 |
Gillingham, M.B., Heitner, S.B., Martin, J., Rose, S., Goldstein, A., El-Gharbawy, A.H., Deward, S., Lasarev, M.R., Pollaro, J., DeLany, J.P., Burchill, L.J., Goodpaster, B., Shoemaker, J., Matern, D., Harding, C.O., & Vockley, J. (11 2017). Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial. J. Inherit. Metab. Dis., 40, 831-843. doi:10.1007/s10545-017-0085-8 |
| F.4049 |
Giuliani, E., Coppi, F., Bertolotti, V., Gorlato, G., Zavatta, M., & Barbieri, A. (Nov 2013). Critical illness in energy metabolism genetic disorder: rhabdomyolysis, acute kidney injury, respiratory arrest. West Indian Med J, 62, 773-5. doi:10.7727/wimj.2012.237 |
| G.143 |
Haglind C.B., Ask S., von Dobeln U., Engvall M., Ekblom O., Stenlid M.H. & Nordenstrom A. (2016). Energy expenditure and lipid metabolism in very long-chain Acyl-CoA dehydrogenase (VLCAD) deficiency. Molecular Genetics and Metabolism (Abstract #16). |
| F.4051 |
Hisahara, S., Matsushita, T., Furuyama, H., Tajima, G., Shigematsu, Y., Imai, T., & Shimohama, S. (04 2015). A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis. Tohoku J. Exp. Med., 235, 305-10. doi:10.1620/tjem.235.305 |
| F.4052 |
Hoffman, J.D., Steiner, R.D., Paradise, L., Harding, C.O., Ding, L., Strauss, A.W., & Kaplan, P. (Jul 2006). Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency. Mil Med, 171(7):657-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/16895136 |
| G.137 |
Huber, A and van Calcar, S. (2017, July 27). Summary: Allowing breastfeeding and breastmilk in the treatment of VLCAD patients. [Electronic mailing list message]. Retrieved from PNO-METAB-L, Archives. |
| F.4055 |
IBEMC, Pena, L.D., van Calcar, S.C., Hansen, J., Edick, M.J., Walsh Vockley, C., Leslie, N., Cameron, C., Mohsen, A.W., Berry, S.A., Arnold, G.L., & Vockley, J. (08 2016). Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Mol. Genet. Metab., 118, 272-81. doi:10.1016/j.ymgme.2016.05.007 |
| F.3712 |
Katz, S., Landau, Y., Pode-Shakked, B., Pessach, I.M., Rubinshtein, M., Anikster, Y., Salem, Y., & Paret, G. (Mar 2017). 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, 10, 5-7. doi:10.1016/j.ymgmr.2016.11.008 |
| F.3717 |
Kluge, S., Kühnelt, P., Block, A., Merkel, M., Gocht, A., Lukacs, Z., Kohlschütter, A., & Kreymann, G. (Apr 2003). A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults. Crit. Care Med., 31, 1273-6. doi:10.1097/01.CCM.0000045201.10682.F6 |
| F.3719 |
Korematsu, S., Kosugi, Y., Kumamoto, T., Yamaguchi, S., & Izumi, T. (Aug 2009). Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency. Pediatr. Neurol., 41, 151-3. doi:10.1016/j.pediatrneurol.2009.02.020 |
| F.617 |
Laforêt, P., Acquaviva-Bourdain, C., Rigal, O., Brivet, M., Penisson-Besnier, I., Chabrol, B., Chaigne, D., Boespflug-Tanguy, O., Laroche, C., Bedat-Millet, A.L., Behin, A., Delevaux, I., Lombès, A., Andresen, B.S., Eymard, B., & Vianey-Saban, C. (May 2009). Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul. Disord., 19, 324-9. doi:10.1016/j.nmd.2009.02.007 |
| G.131 |
Lavorgna, s, Cresta A, Carmona N, Levy L. (2016) Dietary Management of sypmtpmatic Very long-chain Acyl-CoA Dehydrogenase deficiency (VLCADD) patients in a reference center in Argentia. Abstract #21, GMDi Conference, www.gmdi.org |
| G.97 |
Leslie ND., Tinkle BT., Strauss, AW., Shooner K. & Zhang K. (2011). Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews. University of Seattle, Seattle, Washington. Bookshelf ID: NBK6816PMID: 20301763. http://www.ncbi.nlm.nih.gov/books/NBK6816/?report=printable. |
| F.3735 |
Li, X., Ding, Y., Ma, Y., Liu, Y., Wang, Q., Song, J., & Yang, Y. (Mar 2015). Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis. Eur J Med Genet, 58, 134-9. doi:10.1016/j.ejmg.2015.01.005 |
| G.129 |
MacLeod E.M., Regier D.S., Greene C.L., Barshop B.A. & Krimse B.K. (2014). Very long chain acyl-CoA dehydrogenase deficiency (VLCADD): Management through puberty. Genetic Metabolic Dietitian International (GMDI) Meeting, #8. Abstract retrieved from http://gmdi.org/Portals/0/documents/2014abstracts.pdf. |
| G.147 |
Mayhew J., Vockley J., Burton B., Berry G., Longo N., Phillips J., Sanchez-Valle A., Tanpalboon P., Grunewald S., Murphy E., Chen W., Chen C.Y., Cataldo J., Marsden D., Bowden A., Kakkis E., Skrinar A. & Humphrey R. (2007). Assessments of Exercise Tolerance and Muscle Function in Long Chain-Fatty Acid Oxidation Disorders (LC-FAOD): Results From a Phase 2 Open Label Study of UX007. 13thInternational Congress of Inborn Errors of Metabolism (ICIEM) #491. |
| F.3795 |
Mendez-Figueroa, H., Shchelochkov, O.A., Shaibani, A., Aagaard-Tillery, K., & Shinawi, M.S. (Aug 2010). Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy. J Perinatol, 30, 558-62. doi:10.1038/jp.2009.198 |
| F.630 |
Merinero, B., Pascual Pascual, S.I., Pérez-Cerdá, C., Gangoiti, J., Castro, M., Garcia, M.J., Pascual Castroviejo, I., Vianey-Saban, C., Andresen, B., Gregersen, N., & Ugarte, M. (Oct 1999). Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis., 22(7):802-10. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10518280 |
| F.3797 |
Merinero, B., Pérez-Cerdá, C., Garcia, M.J., Gangoiti, J., Font, L.M., Garcia Silva, M.T., Vianey-Saban, C., Duran, M., & Ugarte, M. (1996). Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course. J. Inherit. Metab. Dis., 19(2):173-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8739958 |
| F.658 |
Minetti, C., Garavaglia, B., Bado, M., Invernizzi, F., Bruno, C., Rimoldi, M., Pons, R., Taroni, F., & Cordone, G. (Feb 1998). Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. Neuromuscul. Disord., 8(1):3-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9565984 |
| F.3816 |
Murata, K.Y., Sugie, H., Nishino, I., Kondo, T., & Ito, H. (Feb 2014). A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency. Muscle Nerve, 49, 295-6. doi:10.1002/mus.24055 |
| F.3820 |
Nada, M.A., Vianey-Saban, C., Roe, C.R., Ding, J.H., Mathieu, M., Wappner, R.S., Bialer, M.G., McGlynn, J.A., & Mandon, G. (Feb 1996). Prenatal diagnosis of mitochondrial fatty acid oxidation defects. Prenat. Diagn., 16, 117-24. doi:10.1002/(SICI)1097-0223(199602)16:2<117::AID-PD820>3.0.CO;2-Z |
| F.3851 |
Ogundare, O., Jumma, O., Turnbull, D.M., & Woywodt, A. (Sep 2009). Searching for the needle in the Haystacks. Lancet, 374, 850. doi:10.1016/S0140-6736(09)61032-1 |
| F.3858 |
Oliveira, S.F., Pinho, L., Rocha, H., Nogueira, C., Vilarinho, L., Dinis, M.J., & Silva, C. (Aug 2013). Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency. Clin Pract, 3, e22. doi:10.4081/cp.2013.e22 |
| F.3859 |
Olpin, S.E. (2005). Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults. Clin. Lab., 51(5-6):289-306. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15991803 |
| F.640 |
Parini, R., Garavaglia, B., Saudubray, J.M., Bardelli, P., Melotti, D., Zecca, G., & Di Donato, S. (Jul 1991). Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests. J. Pediatr., 119(1 Pt 1):77-80. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2066862 |
| F.3884 |
Parini, R., Menni, F., Garavaglia, B., Fesslova, V., Melotti, D., Massone, M.L., Lamantea, E., Rimoldi, M., Vizziello, P., & Gatti, R. (Dec 1998). Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency. Eur. J. Pediatr., 157(12):992-5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9877038 |
| F.660 |
Pervaiz, M.A., Kendal, F., Hegde, M., & Singh, R.H. (Jan 2011). MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. Indian J Hum Genet, 17, 29-32. doi:10.4103/0971-6866.82190 |
| F.3894 |
Pollitt, R.J. (1995). Disorders of mitochondrial long-chain fatty acid oxidation. J. Inherit. Metab. Dis., 18(4):473-90. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7494405 |
| F.3896 |
Pons, R., Cavadini, P., Baratta, S., Invernizzi, F., Lamantea, E., Garavaglia, B., & Taroni, F. (Feb 2000). Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr. Neurol., 22(2):98-105. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10738914 |
| F.661 |
Potter, B.K., Little, J., Chakraborty, P., Kronick, J.B., Evans, J., Frei, J., Sutherland, S.C., Wilson, K., & Wilson, B.J. (Jan 2012). Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. J. Inherit. Metab. Dis., 35, 115-23. doi:10.1007/s10545-011-9352-2 |
| F.10 |
Roe, C.R., Roe, D.S., Wallace, M., & Garritson, B. (Dec 2007). Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders. Mol. Genet. Metab., 92, 346-50. doi:10.1016/j.ymgme.2007.07.012 |
| F.12 |
Roe, C.R., Sweetman, L., Roe, D.S., David, F., & Brunengraber, H. (Jul 2002). Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J. Clin. Invest., 110, 259-69. doi:10.1172/JCI15311 |
| F.629 |
Roe, C.R., Wiltse, H.E., Sweetman, L., & Alvarado, L.L. (Mar 2000). Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency. J. Pediatr., 136, 397-9. doi:10.1067/mpd.2000.103853 |
| G.128 |
Rohr F. (2015). Nutrition Management of Fatty Acid Oxidation Disorders. In LE. Bernstein et al. (Eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University (pp 271-282). Switzerland, Springer International Publishing. |
| G.136 |
Rohr, F. (2017, February 16). Summary: Using the sum of acylcarnitines for the management of VLCAD patients. [Electronic mailing list message]. Retrieved from PNO-METAB-L, Archives. |
| F.8 |
Ruiz-Sanz, J.I., Aldamiz-Echevarria, L., Arrizabalaga, J., Aquino, L., Jimeno, P., Pérez-Nanclares, G., & Sanjurjo, P. (Aug 2001). Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil. J. Inherit. Metab. Dis., 24(4):493-503. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11596652 |
| G.145 |
Russi A.S. (2017). Severe Cardiomyopathy in a Child With Vlcad Deficiency Despite Triheptanoin therapy. 13thInternational Congress of Inborn Errors of Metabolism (ICIEM) #475. |
| F.4098 |
Scalais, E., Bottu, J., Wanders, R.J., Ferdinandusse, S., Waterham, H.R., & De Meirleir, L. (Jan 2015). Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis. Am. J. Med. Genet. A, 167A, 211-4. doi:10.1002/ajmg.a.36803 |
| F.4104 |
Schmidt, J., Hunsicker, A., Irouschek, A., Köhler, H., Knorr, C., & Birkholz, T. (Sep 2009). Early recovery from anesthesia and extubation in an infant with very long chain acyl-CoA dehydrogenase deficiency using midazolam, mivacurium, and high dose remifentanil. Paediatr Anaesth, 19, 909-10. doi:10.1111/j.1460-9592.2009.03088.x |
| G.142 |
Schwoerer J.S., Rice G. & Maginot K. (2016). Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCADD) and Cardiac Involvement. Molecular Genetics and Metabolism 117, 285. |
| F.4117 |
Scott Schwoerer, J., Cooper, G., & van Calcar, S. (Jun 2015). Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency. Mol Genet Metab Rep, 3, 39-41. doi:10.1016/j.ymgmr.2015.03.003 |
| F.4118 |
Sedgwick, E.R. (2013 Jul-Aug). Early presentation of very long chain acyl-CoA dehydrogenase deficiency: nursing action resulting in a positive outcome. J Pediatr Nurs, 28, 379-82. doi:10.1016/j.pedn.2012.11.002 |
| F.4124 |
Sharef, S.W., Al-Senaidi, K., & Joshi, S.N. (Sep 2013). Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review. Oman Med J, 28, 354-6. doi:10.5001/omj.2013.101 |
| F.4128 |
Shigematsu, Y., Hirano, S., Hata, I., Tanaka, Y., Sudo, M., Tajima, T., Sakura, N., Yamaguchi, S., & Takayanagi, M. (Jul 2003). Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci., 792(1):63-72. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12828998 |
| F.4134 |
Sindgikar, S.P., Veetil, D.R., Shenoy, R.D., & Shenoy, V. (Oct 2014). Fatty Acid oxidation disorder with secondary mitochondrial energy production defect: a case report. Indian J Clin Biochem, 29, 514-6. doi:10.1007/s12291-013-0391-3 |
| G.138 |
Singh, R. and van Calcar, S. (2015 October 13). Summary: Treatment recommendations for a VLCAD baby with elevated CK. [Electronic mailing list message]. Retrieved from PNO-METAB-L, Archives. |
| F.4140 |
Skladal, D., Sass, J.O., Geiger, H., Geiger, R., Mann, C., Vreken, P., Wanders, R.J., & Trawöger, R. (Oct 2000). Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects. J. Pediatr. Gastroenterol. Nutr., 31(4):448-52. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11045847 |
| F.635 |
Sluysmans, T., Tuerlinckx, D., Hubinont, C., Verellen-Dumoulin, C., Brivet, M., & Vianey-Saban, C. (Sep 1997). Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management. J. Pediatr., 131(3):444-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9329424 |
| F.17 |
Smelt, A.H., Poorthuis, B.J., Onkenhout, W., Scholte, H.R., Andresen, B.S., van Duinen, S.G., Gregersen, N., & Wintzen, A.R. (Apr 1998). Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann. Neurol., 43, 540-4. doi:10.1002/ana.410430422 |
| F.4144 |
Solis, J.O., & Singh, R.H. (Dec 2002). Management of fatty acid oxidation disorders: a survey of current treatment strategies. J Am Diet Assoc, 102(12):1800-3. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12487544 |
| F.657 |
Spiekerkötter, U., Schwahn, B., Korall, H., Trefz, F.K., Andresen, B.S., & Wendel, U. (Apr 2000). Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots. Acta Paediatr., 89(4):492-5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10830467 |
| F.7 |
Spiekerkoetter, U. (Jun 2007). Effects of a fat load and exercise on asymptomatic VLCAD deficiency. J. Inherit. Metab. Dis., 30, 405. doi:10.1007/s10545-007-0548-4 |
| F.2 |
Spiekerkoetter, U., Lindner, M., Santer, R., Grotzke, M., Baumgartner, M.R., Boehles, H., Das, A., Haase, C., Hennermann, J.B., Karall, D., de Klerk, H., Knerr, I., Koch, H.G., Plecko, B., Röschinger, W., Schwab, K.O., Scheible, D., Wijburg, F.A., Zschocke, J., Mayatepek, E., & Wendel, U. (Aug 2009). Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J. Inherit. Metab. Dis., 32, 488-97. doi:10.1007/s10545-009-1125-9 |
| F.3 |
Spiekerkoetter, U., Lindner, M., Santer, R., Grotzke, M., Baumgartner, M.R., Boehles, H., Das, A., Haase, C., Hennermann, J.B., Karall, D., de Klerk, H., Knerr, I., Koch, H.G., Plecko, B., Röschinger, W., Schwab, K.O., Scheible, D., Wijburg, F.A., Zschocke, J., Mayatepek, E., & Wendel, U. (Aug 2009). Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J. Inherit. Metab. Dis., 32, 498-505. doi:10.1007/s10545-009-1126-8 |
| F.626 |
Spiekerkoetter, U., Tenenbaum, T., Heusch, A., & Wendel, U. (2003 May-Jun). Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infection. Pediatr Cardiol, 24, 295-7. doi:10.1007/s00246-002-0277-2 |
| F.636 |
Straussberg, R., Harel, L., Varsano, I., Elpeleg, O.N., Shamir, R., & Amir, J. (Jun 1997). Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency. Pediatrics, 99(6):894-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9164788 |
| F.4164 |
Stępień, K.M., Roberts, M., & Hendriksz, C.J. (2015 Oct-Dec). Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary management. Dev Period Med, 19(4):450-3. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/26982752 |
| F.4180 |
Tajima, G., Sakura, N., Shirao, K., Okada, S., Tsumura, M., Nishimura, Y., Ono, H., Hasegawa, Y., Hata, I., Naito, E., Yamaguchi, S., Shigematsu, Y., & Kobayashi, M. (Dec 2008). Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan. Pediatr. Res., 64, 667-72. doi:10.1203/PDR.0b013e318187cc44 |
| G.140 |
Timmer, C. and Gillingham, M. (2017 May 1). Summary: Complications in adults with LCFAOD. [Electronic mailing list message]. Retrieved from PNO-METAB-L, Archives. |
| F.621 |
Tong, M.K., Lam, C.S., Mak, T.W., Fu, M.Y., Ng, S.H., Wanders, R.J., & Tang, N.L. (Aug 2006). Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure. Eur. Respir. J., 28, 447-50. doi:10.1183/09031936.06.00139205 |
| F.15 |
Touma, E.H., Rashed, M.S., Vianey-Saban, C., Sakr, A., Divry, P., Gregersen, N., & Andresen, B.S. (Jan 2001). A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency. Arch. Dis. Child., 84(1):58-60. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11124787 |
| G.134 |
van Calcar, S. (2016, May 12). Summary: Fasting restrictions and fat recommendations (LCF and MCT). [Electronic mailing list message]. Retrieved from PNO-METAB-L, Archives. |
| G.126 |
VanHove JLK. (2015). Fatty Acid Oxidation Defects. In LE. Bernstein et al. (Eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University (pp 241-254). Switzerland, Springer International Publishing. |
| G.141 |
Vockley J, Bennett MJ, Gillingham MB. Vockley J, Bennett M.J., Gillingham M.B. Vockley, Jerry, et al.Mitochondrial Fatty Acid Oxidation Disorders. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. Valle D, Beaudet A.L., Vogelstein B, Kinzler K.W., Antonarakis S.E., Ballabio A, Gibson K, Mitchell G Eds. David Valle, et al.eds. The Online Metabolic and Molecular Bases of Inherited Disease New York, NY: McGraw-Hill; 2014. http://ommbid.mhmedical.com/content.aspx?bookid=971§ionid=62633582. Accessed November 14, 2017. |
| G.146 |
Vockley J., Burton B., Berry G., Longo N., Phillips J., Sanchez-Valle A., Tanpalboon P., Grunewald S., Murphy E., Bowden A., Chen W., Chen C.Y., Cataldo J., Marsden D. & Kakkis E. (2017). Results From a 78-week Single-Arm, Open-Label Phase 2 Study to Evaluate UX007 in Pediatric and Adult Patients with Moderate to Severe Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD). 13thInternational Congress of Inborn Errors of Metabolism (ICIEM) #482. |
| F.4394 |
Vockley, J., Burton, B., Berry, G.T., Longo, N., Phillips, J., Sanchez-Valle, A., Tanpaiboon, P., Grunewald, S., Murphy, E., Humphrey, R., Mayhew, J., Bowden, A., Zhang, L., Cataldo, J., Marsden, D.L., & Kakkis, E. (04 2017). UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment. Mol. Genet. Metab., 120, 370-377. doi:10.1016/j.ymgme.2017.02.005 |
| F.4395 |
Vockley, J., Charrow, J., Ganesh, J., Eswara, M., Diaz, G.A., McCracken, E., Conway, R., Enns, G.M., Starr, J., Wang, R., Abdenur, J.E., Sanchez-de-Toledo, J., & Marsden, D.L. (11 2016). Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. Mol. Genet. Metab., 119, 223-231. doi:10.1016/j.ymgme.2016.08.008 |
| F.4396 |
Vockley, J., Marsden, D., McCracken, E., DeWard, S., Barone, A., Hsu, K., & Kakkis, E. (2015 Sep-Oct). Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review. Mol. Genet. Metab., 116, 53-60. doi:10.1016/j.ymgme.2015.06.006 |
| F.4397 |
Voermans, N.C., Poels, P.J., Kluijtmans, L.A., & van Engelen, B.G. (Dec 2005). The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency. Neuromuscul. Disord., 15, 844-6. doi:10.1016/j.nmd.2005.09.003 |
| F.622 |
Voermans, N.C., van Engelen, B.G., Kluijtmans, L.A., Stikkelbroeck, N.M., & Hermus, A.R. (Feb 2006). Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency. Am. J. Med., 119, 176-9. doi:10.1016/j.amjmed.2005.07.064 |
| F.4401 |
Welsink-Karssies, M.M., Polderman, J.A.W., Nieveen van Dijkum, E.J., Preckel, B., Schlack, W.S., Visser, G., Hollak, C.E., & Hermanides, J. (2017). Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients. JIMD Rep, 34, 49-54. doi:10.1007/8904_2016_6 |
| F.656 |
Wood, J.C., Magera, M.J., Rinaldo, P., Seashore, M.R., Strauss, A.W., & Friedman, A. (Jul 2001). Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card. Pediatrics, 108(1):E19. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11433098 |
| F.4406 |
Wraige, E., Champion, M.P., Turner, C., & Dalton, R.N. (Nov 2002). Fat oxidation defect presenting with overwhelming ketonuria. Arch. Dis. Child., 87(5):428-9; discussion 428-9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12390922 |
| F.4411 |
Yamamoto, H., Tachibana, D., Tajima, G., Shigematsu, Y., Hamasaki, T., Tanaka, A., & Koyama, M. (Jul 2015). Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency. J. Obstet. Gynaecol. Res., 41, 1126-8. doi:10.1111/jog.12672 |
| F.4422 |
Yoon, H.R., Strauss, A.W., & Yoo, H.W. (Jun 2001). Sudden death in a Korean infant with very long-chain acyl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis., 24(3):407-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11486907 |
| F.4415 |
Zhang, R.N., Li, Y.F., Qiu, W.J., Ye, J., Han, L.S., Zhang, H.W., Lin, N., & Gu, X.F. (May 2014). Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency. World J Pediatr, 10, 119-25. doi:10.1007/s12519-014-0480-2 |
| F.6 |
Zia, A., Kolodny, E.H., & Pastores, G.M. (Oct 2007). Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties. J. Inherit. Metab. Dis., 30, 817. doi:10.1007/s10545-007-0582-2 |
| F.4417 |
Zweers, H., Timmer, C., Rasmussen, E., den Heijer, M., & de Valk, H. (2012). Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defect. JIMD Rep, 6, 127-9. doi:10.1007/8904_2012_131 |
