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Gene Review

ACADVL  -  acyl-CoA dehydrogenase, very long chain

Homo sapiens

Synonyms: ACAD6, LCACD, VLCAD, Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
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Disease relevance of ACADVL


Psychiatry related information on ACADVL


High impact information on ACADVL


Chemical compound and disease context of ACADVL


Biological context of ACADVL


Anatomical context of ACADVL


Associations of ACADVL with chemical compounds


Physical interactions of ACADVL


Other interactions of ACADVL

  • Our results showed that the essential promoter activity of PSD-95 is carried within an approximately 400-bp region, which covers the entire approximately 270-bp minimal promoter of VLCAD [13].
  • The realization that the effect of the monogene, such as disease-causing mutations in the VLCAD, MCAD, and SCAD genes, may be modified by variations in other genes presages the need for profile analyses of additional genetic variations [17].
  • Exposure to fibrates leads to normalization of fatty acid oxidation (FAO) in fibroblasts from patients with myopathic forms of CPT2 deficiency or VLCAD deficiency [18].
  • Mature VLCAD is a homodimer of a 70-kDa protein associated with the mitochondrial membrane [19].
  • Liver and heart showed expression of both very long-chain acyl-CoA dehydrogenase (VLCAD) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) mRNA [3].

Analytical, diagnostic and therapeutic context of ACADVL

  • Western blot analysis of patient fibroblasts showed that the identified mutations result in severely reduced amounts of VLCAD protein [15].
  • Cell therapy of VLCAD deficiency was related to drug-induced increases in VLCAD mRNA (+44 to +150%; P<0.001), protein (1.5-2-fold) and residual enzyme activity (up to 7.7-fold) in patient cells [9].
  • Transfected fibroblasts showed correction of the metabolic block as demonstrated by normalization of C14- and C16-acylcarnitine species in cell culture media and restoration of VLCAD activity in cells [10].
  • The successful prenatal diagnosis of VLCAD and MCAD deficiencies using in vitro probes of fatty acid oxidation in fibroblasts suggests that this approach can potentially recognize many mitochondrial fatty acid oxidation defects even if no prior diagnosis is determined in the family at risk [20].
  • A new diagnostic test for VLCAD deficiency using immunohistochemistry [21].


  1. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Strauss, A.W., Powell, C.K., Hale, D.E., Anderson, M.M., Ahuja, A., Brackett, J.C., Sims, H.F. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  2. Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Aoyama, T., Souri, M., Ueno, I., Kamijo, T., Yamaguchi, S., Rhead, W.J., Tanaka, K., Hashimoto, T. Am. J. Hum. Genet. (1995) [Pubmed]
  3. Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain. Oey, N.A., Ruiter, J.P., Ijlst, L., Attie-Bitach, T., Vekemans, M., Wanders, R.J., Wijburg, F.A. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  4. Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase. Souri, M., Aoyama, T., Cox, G.F., Hashimoto, T. J. Biol. Chem. (1998) [Pubmed]
  5. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. Cox, G.F., Souri, M., Aoyama, T., Rockenmacher, S., Varvogli, L., Rohr, F., Hashimoto, T., Korson, M.S. J. Pediatr. (1998) [Pubmed]
  6. Long-chain fatty acid oxidation during early human development. Oey, N.A., den Boer, M.E., Wijburg, F.A., Vekemans, M., Augé, J., Steiner, C., Wanders, R.J., Waterham, H.R., Ruiter, J.P., Attié-Bitach, T. Pediatr. Res. (2005) [Pubmed]
  7. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Mathur, A., Sims, H.F., Gopalakrishnan, D., Gibson, B., Rinaldo, P., Vockley, J., Hug, G., Strauss, A.W. Circulation (1999) [Pubmed]
  8. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Andresen, B.S., Olpin, S., Poorthuis, B.J., Scholte, H.R., Vianey-Saban, C., Wanders, R., Ijlst, L., Morris, A., Pourfarzam, M., Bartlett, K., Baumgartner, E.R., deKlerk, J.B., Schroeder, L.D., Corydon, T.J., Lund, H., Winter, V., Bross, P., Bolund, L., Gregersen, N. Am. J. Hum. Genet. (1999) [Pubmed]
  9. 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. Djouadi, F., Aubey, F., Schlemmer, D., Ruiter, J.P., Wanders, R.J., Strauss, A.W., Bastin, J. Hum. Mol. Genet. (2005) [Pubmed]
  10. In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase. Merritt, J.L., Matern, D., Vockley, J., Daniels, J., Nguyen, T.V., Schowalter, D.B. Mol. Genet. Metab. (2006) [Pubmed]
  11. Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy. Doi, T., Abo, W., Tateno, M., Hayashi, K., Hori, T., Nakada, T., Fukao, T., Takahashi, Y., Terada, N. Eur. J. Pediatr. (2000) [Pubmed]
  12. Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting. Engbers, H.M., Dorland, L., de Sain, M.G., Eskes, P.F., Visser, G. J. Inherit. Metab. Dis. (2005) [Pubmed]
  13. Characterization of the bidirectional promoter region between the human genes encoding VLCAD and PSD-95. Zhang, L.F., Ding, J.H., Yang, B.Z., He, G.C., Roe, C. Genomics (2003) [Pubmed]
  14. Overlapping gene structure of human VLCAD and DLG4. Zhou, C., Blumberg, B. Gene (2003) [Pubmed]
  15. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Andresen, B.S., Bross, P., Vianey-Saban, C., Divry, P., Zabot, M.T., Roe, C.R., Nada, M.A., Byskov, A., Kruse, T.A., Neve, S., Kristiansen, K., Knudsen, I., Corydon, M.J., Gregersen, N. Hum. Mol. Genet. (1996) [Pubmed]
  16. Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. Onkenhout, W., Venizelos, V., van der Poel, P.F., van den Heuvel, M.P., Poorthuis, B.J. Clin. Chem. (1995) [Pubmed]
  17. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Gregersen, N., Andresen, B.S., Corydon, M.J., Corydon, T.J., Olsen, R.K., Bolund, L., Bross, P. Hum. Mutat. (2001) [Pubmed]
  18. Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs? Djouadi, F., Aubey, F., Schlemmer, D., Gobin, S., Laforet, P., Wanders, R.J., Strauss, A.W., Bonnefont, J.P., Bastin, J. J. Inherit. Metab. Dis. (2006) [Pubmed]
  19. Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane. Souri, M., Aoyama, T., Hoganson, G., Hashimoto, T. FEBS Lett. (1998) [Pubmed]
  20. Prenatal diagnosis of mitochondrial fatty acid oxidation defects. 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. Prenat. Diagn. (1996) [Pubmed]
  21. A new diagnostic test for VLCAD deficiency using immunohistochemistry. Ohashi, Y., Hasegawa, Y., Murayama, K., Ogawa, M., Hasegawa, T., Kawai, M., Sakata, N., Yoshida, K., Yarita, H., Imai, K., Kumagai, I., Murakami, K., Hasegawa, H., Noguchi, S., Nonaka, I., Yamaguchi, S., Nishino, I. Neurology (2004) [Pubmed]
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