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Gregersen N, Andresen BS, Pedersen CB, et al. Mitochondrial fatty acid oxidation defects--remaining challenges. J Inherit Metab Dis. 2008;31(5):643-57doi: 10.1007/s10545-008-0990-y.
Gregersen, N., Andresen, B. S., Pedersen, C. B., Olsen, R. K., Corydon, T. J., & Bross, P. (2008). Mitochondrial fatty acid oxidation defects--remaining challenges. Journal of inherited metabolic disease, 31(5), 643-57. https://doi.org/10.1007/s10545-008-0990-y
Gregersen, Niels, et al. "Mitochondrial fatty acid oxidation defects--remaining challenges." Journal of inherited metabolic disease vol. 31,5 (2008): 643-57. doi: https://doi.org/10.1007/s10545-008-0990-y
Gregersen N, Andresen BS, Pedersen CB, Olsen RK, Corydon TJ, Bross P. Mitochondrial fatty acid oxidation defects--remaining challenges. J Inherit Metab Dis. 2008 Oct;31(5):643-57. doi: 10.1007/s10545-008-0990-y. Epub 2008 Oct 07. PMID: 18836889.
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J Inherit Metab Dis. 2008 Oct;31(5):643-57. doi: 10.1007/s10545-008-0990-y. Epub 2008 Oct 07.

Mitochondrial fatty acid oxidation defects--remaining challenges.

Journal of inherited metabolic disease

Niels Gregersen, Brage S Andresen, Christina B Pedersen, Rikke K J Olsen, Thomas J Corydon, Peter Bross

Affiliations

  1. Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark. [email protected]

PMID: 18836889 DOI: 10.1007/s10545-008-0990-y

Abstract

Mitochondrial fatty acid oxidation defects have been recognized since the early 1970s. The discovery rate has been rather constant, with 3-4 'new' disorders identified every decade and with the most recent example, ACAD9 deficiency, reported in 2007. In this presentation we will focus on three of the 'old' defects: medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, riboflavin responsive multiple acyl-CoA dehydrogenation (RR-MAD) deficiency, and short-chain acyl-CoA dehydrogenase (SCAD) deficiency. These disorders have been discussed in many publications and at countless conference presentations, and many questions relating to them have been answered. However, continuing clinical and pathophysiological research has raised many further questions, and new ideas and methodologies may be required to answer these. We will discuss these challenges. For MCAD deficiency the key question is why 80% of symptomatic patients are homozygous for the prevalent ACADM gene variation c.985A > G whereas this is found in only approximately 50% of newborns with a positive screen. For RR-MAD deficiency, the challenge is to find the connection between variations in the ETFDH gene and the observed deficiency of a number of different mitochondrial dehydrogenases as well as deficiency of FAD and coenzyme Q(10). With SCAD deficiency, the challenge is to elucidate whether ACADS gene variations are disease-associated, especially when combined with other genetic/cellular/environmental factors, which may act synergistically.

References

  1. Lancet. 1989 Jul 1;2(8653):52-3 - PubMed
  2. J Clin Invest. 1992 Oct;90(4):1219-25 - PubMed
  3. Pediatr Res. 1984 Jul;18(7):663-7 - PubMed
  4. Am J Hum Genet. 1999 Feb;64(2):479-94 - PubMed
  5. Pediatr Res. 2003 Aug;54(2):219-23 - PubMed
  6. J Pediatr. 1981 May;98(5):742-6 - PubMed
  7. Brain. 2007 Aug;130(Pt 8):2045-54 - PubMed
  8. Brain. 1999 Dec;122 ( Pt 12):2401-11 - PubMed
  9. J Biol Chem. 2003 Nov 28;278(48):47449-58 - PubMed
  10. Neuropediatrics. 2004 Oct;35(5):312-6 - PubMed
  11. Biochim Biophys Acta. 1994 Dec 8;1215(3):347-50 - PubMed
  12. J Clin Invest. 1987 May;79(5):1303-9 - PubMed
  13. Am J Hum Genet. 2007 Jul;81(1):87-103 - PubMed
  14. Proc Natl Acad Sci U S A. 2006 Oct 31;103(44):16212-7 - PubMed
  15. Hum Mutat. 1992;1(4):271-9 - PubMed
  16. Clin Chim Acta. 1982 Nov 24;126(1):53-67 - PubMed
  17. Neurology. 1975 Jan;25(1):16-24 - PubMed
  18. Am J Hum Genet. 2007 Mar;80(3):416-32 - PubMed
  19. Pediatr Res. 1982 Oct;16(10):861-8 - PubMed
  20. Biochim Biophys Acta. 1993 Oct 20;1182(3):264-74 - PubMed
  21. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):370-7 - PubMed
  22. Pediatr Res. 2001 Jan;49(1):18-23 - PubMed
  23. Hum Mutat. 2003 Jul;22(1):12-23 - PubMed
  24. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):456-70 - PubMed
  25. Mol Genet Metab. 2006 Jan;87(1):32-9 - PubMed
  26. J Clin Invest. 1988 Jan;81(1):171-5 - PubMed
  27. J Biol Chem. 1995 Jan 27;270(4):1899-907 - PubMed
  28. Annu Rev Biochem. 2007;76:51-74 - PubMed
  29. Pediatr Res. 1997 Nov;42(5):569-76 - PubMed
  30. Pediatr Res. 1996 Jun;39(6):1059-66 - PubMed
  31. J Inherit Metab Dis. 1985;8 Suppl 2:135-6 - PubMed
  32. Proc Natl Acad Sci U S A. 1985 Jul;82(13):4517-20 - PubMed
  33. Hum Genet. 2008 Aug;124(1):43-56 - PubMed
  34. Electrophoresis. 2006 Mar;27(5-6):1182-98 - PubMed
  35. J Clin Invest. 1990 May;85(5):1575-82 - PubMed
  36. J Pediatr. 1994 Mar;124(3):409-15 - PubMed
  37. Clin Chem. 2003 Feb;49(2):295-302 - PubMed
  38. JAMA. 2006 Aug 23;296(8):943-52 - PubMed
  39. Mol Genet Metab. 2006 Jun;88(2):153-8 - PubMed
  40. Annu Rev Cell Dev Biol. 2007;23:115-45 - PubMed
  41. Hum Mol Genet. 1998 Apr;7(4):619-27 - PubMed
  42. J Biol Chem. 1994 Feb 11;269(6):4401-8 - PubMed
  43. Mol Genet Metab. 2007 Jun;91(2):128-37 - PubMed
  44. Br Med J (Clin Res Ed). 1984 Mar 31;288(6422):976 - PubMed
  45. Acta Paediatr. 2002;91(4):480-2 - PubMed
  46. Mol Genet Metab. 2008 May;94(1):61-7 - PubMed
  47. J Clin Invest. 2001 Aug;108(3):457-65 - PubMed
  48. Mol Genet Metab. 2005 Aug;85(4):260-70 - PubMed
  49. Eur J Biochem. 1997 Jun 1;246(2):548-56 - PubMed
  50. Eur J Biochem. 2004 Oct;271(20):4053-63 - PubMed
  51. Science. 1973 Nov 20;182(4115):929-31 - PubMed
  52. J Biol Chem. 1998 May 22;273(21):13065-71 - PubMed
  53. Mol Genet Metab. 2008 Sep-Oct;95(1-2):39-45 - PubMed
  54. Pediatr Res. 1993 Feb;33(2):129-35 - PubMed
  55. Hum Mutat. 2005 May;25(5):443-52 - PubMed
  56. J Biol Chem. 1995 Apr 28;270(17):10284-90 - PubMed
  57. J Biol Chem. 1992 Sep 5;267(25):17925-32 - PubMed
  58. Brain. 2007 Aug;130(Pt 8):2037-44 - PubMed
  59. Clin Chim Acta. 1976 Aug 2;70(3):417-25 - PubMed
  60. Biochim Biophys Acta. 2002 Oct 10;1584(2-3):91-8 - PubMed
  61. Am J Hum Genet. 1996 May;58(5):979-88 - PubMed
  62. Am J Hum Genet. 2001 Jun;68(6):1408-18 - PubMed
  63. Mol Genet Metab. 2003 Apr;78(4):239-46 - PubMed
  64. Clin Chim Acta. 1972 Apr;38(1):17-24 - PubMed
  65. Eur J Biochem. 2004 Feb;271(3):470-82 - PubMed
  66. N Engl J Med. 1998 Dec 10;339(24):1752-7 - PubMed
  67. Biochim Biophys Acta. 1993 Jan 22;1180(3):327-9 - PubMed
  68. Pediatr Res. 1995 May;37(5):675-8 - PubMed
  69. N Engl J Med. 1992 Jul 2;327(1):19-23 - PubMed
  70. Mol Genet Metab. 2002 Aug;76(4):327-34 - PubMed
  71. Pediatr Res. 1983 Nov;17(11):877-84 - PubMed
  72. Nat Rev Genet. 2007 Oct;8(10):749-61 - PubMed
  73. J Inherit Metab Dis. 1985;8 Suppl 1:65-9 - PubMed
  74. Science. 1983 Jul 1;221(4605):73-5 - PubMed
  75. Clin Chim Acta. 1976 Jan 16;66(2):227-39 - PubMed
  76. Mol Genet Metab. 2008 Feb;93(2):179-89 - PubMed
  77. Hum Mol Genet. 1997 May;6(5):695-707 - PubMed
  78. Annu Rev Genomics Hum Genet. 2006;7:103-24 - PubMed

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