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Genetics Home Reference: your guide to understanding genetic conditions
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ACADVL

Reviewed November 2009

What is the official name of the ACADVL gene?

The official name of this gene is “acyl-CoA dehydrogenase, very long chain.”

ACADVL is the gene's official symbol. The ACADVL gene is also known by other names, listed below.

What is the normal function of the ACADVL gene?

The ACADVL gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase (VLCAD). This enzyme functions within mitochondria, the energy-producing centers in cells. Very long-chain acyl-CoA dehydrogenase is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them to energy.

Very long-chain acyl-CoA dehydrogenase is required to metabolize a group of fats called very long-chain fatty acids. These fatty acids are found in food and body fat. Fatty acids are a major source of energy for the heart and muscles. During periods without food (fasting), fatty acids are also an important energy source for the liver and other tissues.

How are changes in the ACADVL gene related to health conditions?

very long-chain acyl-CoA dehydrogenase deficiency - caused by mutations in the ACADVL gene

More than 100 mutations in the ACADVL gene have been found to cause very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Many of these mutations change single protein building blocks (amino acids) in the VLCAD enzyme. Other mutations delete part of the ACADVL gene or create a premature stop signal in the instructions for making VLCAD. These mutations lead to a change in the enzyme's structure, severely reducing or eliminating its activity. As a result, very little functional enzyme is produced.

With a shortage (deficiency) of functional VLCAD enzyme, very-long chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to signs and symptoms of this disorder such as the lack of energy (lethargy) and low blood sugar (hypoglycemia). Very long-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the heart, liver, and muscles. This abnormal buildup causes the other signs and symptoms of VLCAD deficiency.

Where is the ACADVL gene located?

Cytogenetic Location: 17p13.1

Molecular Location on chromosome 17: base pairs 7,217,124 to 7,225,266

The ACADVL gene is located on the short (p) arm of chromosome 17 at position 13.1.

The ACADVL gene is located on the short (p) arm of chromosome 17 at position 13.1.

More precisely, the ACADVL gene is located from base pair 7,217,124 to base pair 7,225,266 on chromosome 17.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ACADVL?

You and your healthcare professional may find the following resources about ACADVL helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ACADVL gene or gene products?

  • ACAD6
  • ACADV_HUMAN
  • acyl-coenzyme A dehydrogenase, very long chain
  • LCACD
  • VLCAD

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ACADVL?

acids ; CoA ; coenzyme A ; deficiency ; dehydrogenase ; enzyme ; fasting ; fatty acids ; gene ; hypoglycemia ; lethargy ; mitochondria ; oxidation ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, Nada MA, Byskov A, Kruse TA, Neve S, Kristiansen K, Knudsen I, Corydon MJ, Gregersen N. 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. Hum Mol Genet. 1996 Apr;5(4):461-72. Erratum in: Hum Mol Genet 1996 Sep;5(9):1390. (http://www.ncbi.nlm.nih.gov/pubmed/8845838?dopt=Abstract)
  • Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, Rhead WJ, Uetake K, Tanaka K, Hashimoto T. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest. 1995 Jun;95(6):2465-73. (http://www.ncbi.nlm.nih.gov/pubmed/7769092?dopt=Abstract)
  • Goetzman ES, Wang Y, He M, Mohsen AW, Ninness BK, Vockley J. Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. Mol Genet Metab. 2007 Jun;91(2):138-47. Epub 2007 Mar 19. (http://www.ncbi.nlm.nih.gov/pubmed/17374501?dopt=Abstract)
  • Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001 Sep;18(3):169-89. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11524729?dopt=Abstract)
  • Merritt JL 2nd, Matern D, Vockley J, Daniels J, Nguyen TV, Schowalter DB. In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase. Mol Genet Metab. 2006 Aug;88(4):351-8. Epub 2006 Apr 18. (http://www.ncbi.nlm.nih.gov/pubmed/16621643?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/37)
  • Pons R, Cavadini P, Baratta S, Invernizzi F, Lamantea E, Garavaglia B, Taroni F. Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol. 2000 Feb;22(2):98-105. (http://www.ncbi.nlm.nih.gov/pubmed/10738914?dopt=Abstract)
  • Souri M, Aoyama T, Hoganson G, Hashimoto T. Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane. FEBS Lett. 1998 Apr 17;426(2):187-90. (http://www.ncbi.nlm.nih.gov/pubmed/9599005?dopt=Abstract)
  • Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr. 2003 Sep;143(3):335-42. (http://www.ncbi.nlm.nih.gov/pubmed/14517516?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2009
Published: December 16, 2014