Reviewed April 2007
What is the official name of the IVD gene?
The official name of this gene is “isovaleryl Coenzyme A 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-coenzyme A (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?
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isovaleric acidemia - caused by mutations in the IVD gene
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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 38,484,977 to 38,498,354
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 38,484,977 to base pair 38,498,354 on chromosome 15.
See How do geneticists indicate the location of a gene? 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
- Gene Tests - DNA tests ordered by healthcare professionals
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the IVD gene or gene products?
- ACAD2
- Isovaleryl-CoA dehydrogenase
- IVD_HUMAN
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding IVD?
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? in the Handbook.