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Genetics Home Reference: your guide to understanding genetic conditions
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IVD

Reviewed April 2007

What is the official name of the IVD gene?

The official name of this gene is “isovaleryl-CoA dehydrogenase.”

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

What is the normal function of the IVD gene?

The IVD gene provides instructions for making an enzyme called isovaleryl-CoA dehydrogenase. This enzyme plays an essential role in processing proteins obtained from the diet. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. In cells throughout the body, isovaleryl-CoA dehydrogenase is found within specialized structures called mitochondria. Mitochondria convert energy from food to a form that cells can use.

Isovaleryl-CoA dehydrogenase helps process a particular amino acid called leucine. Specifically, this enzyme is responsible for the third step in the breakdown of leucine. This step is a chemical reaction that converts a molecule called isovaleryl-CoA to another molecule, 3-methylcrotonyl-CoA. Additional chemical reactions convert 3-methylcrotonyl-CoA into molecules that are used for energy.

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

isovaleric acidemia - caused by mutations in the IVD gene

At least 25 mutations in the IVD gene have been identified in people with isovaleric acidemia. Some of these mutations disrupt the normal function of the enzyme, while other mutations prevent the cell from producing any functional enzyme. As a result, the body is unable to break down leucine properly. Defects in leucine processing allow several potentially harmful substances, including a compound called isovaleric acid, to build up to toxic levels in the body. An accumulation of isovaleric acid causes people with isovaleric acidemia to have a characteristic odor of sweaty feet. The buildup of isovaleric acid and related compounds also damages the brain and nervous system, leading to poor feeding, lack of energy (lethargy), seizures, and the other signs and symptoms of isovaleric acidemia.

Where is the IVD gene located?

Cytogenetic Location: 15q14-q15

Molecular Location on chromosome 15: base pairs 40,697,685 to 40,713,511

The IVD gene is located on the long (q) arm of chromosome 15 between positions 14 and 15.

The IVD gene is located on the long (q) arm of chromosome 15 between positions 14 and 15.

More precisely, the IVD gene is located from base pair 40,697,685 to base pair 40,713,511 on chromosome 15.

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 IVD?

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

  • Educational resources - Information pages
    Basic Neurochemistry (sixth edition, 1999): The cause of isovaleric acidemia is a congenital deficiency of isovaleryl-CoA dehydrogenase, which mediates formation of 3-methylcrotonate (http://www.ncbi.nlm.nih.gov/books/NBK27945/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for IVD (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3712%5Bgeneid%5D)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((IVD%5BTIAB%5D)%20AND%20(isovaleric%20acidemia%5BTIAB%5D))%20OR%20(isovaleryl%20Coenzyme%20A%20dehydrogenase%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/607036)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/3712)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=3712)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=6186)

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

  • ACAD2
  • isovaleryl CoA dehydrogenase
  • IVD_HUMAN

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 IVD?

acids ; amino acid ; cell ; CoA ; compound ; dehydrogenase ; enzyme ; gene ; lethargy ; leucine ; mitochondria ; molecule ; nervous system ; toxic

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

References

  • Emery, Alan E H; Rimoin, David L; Emery & Rimoin's principles and practice of medical genetics.; 4th ed. / edited by David L. Rimoin ... [et al.]; London ; New York : Churchill Livingstone, 2002. p2550-2551.
  • Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet. 2004 Dec;75(6):1136-42. Epub 2004 Oct 14. (http://www.ncbi.nlm.nih.gov/pubmed/15486829?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/3712)
  • Lin WD, Wang CH, Lee CC, Lai CC, Tsai Y, Tsai FJ. Genetic mutation profile of isovaleric acidemia patients in Taiwan. Mol Genet Metab. 2007 Feb;90(2):134-9. Epub 2006 Oct 4. (http://www.ncbi.nlm.nih.gov/pubmed/17027310?dopt=Abstract)
  • Mohsen AW, Anderson BD, Volchenboum SL, Battaile KP, Tiffany K, Roberts D, Kim JJ, Vockley J. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Biochemistry. 1998 Jul 14;37(28):10325-35. (http://www.ncbi.nlm.nih.gov/pubmed/9665741?dopt=Abstract)
  • Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p2131-2135.
  • Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, Liu W. Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. Am J Hum Genet. 2000 Feb;66(2):356-67. (http://www.ncbi.nlm.nih.gov/pubmed/10677295?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: April 2007
Published: May 20, 2013