Reviewed February 2007
What is the official name of the ACADM gene?
The official name of this gene is “acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain.”
ACADM is the gene's official symbol. The ACADM gene is also known by other names, listed below.
What is the normal function of the ACADM gene?
The ACADM gene provides instructions for making an enzyme called medium-chain acyl-coenzyme A (CoA) dehydrogenase that is important for converting certain fats to energy. Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. Fatty acid oxidation is particularly important during periods without food (fasting) or when energy demands are increased.
Medium-chain acyl-CoA dehydrogenase is required for the step in fatty acid oxidation that metabolizes a group of fats called medium-chain fatty acids. These fatty acids are found in foods such as milk and certain oils, are stored in the body's fat tissue, and are produced when larger fatty acids are metabolized.
Medium-chain acyl-CoA dehydrogenase functions within mitochondria, the energy-producing centers in cells. This enzyme is found in mitochondria of several types of tissues, particularly the liver.
How are changes in the ACADM gene related to health conditions?
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medium-chain acyl-coenzyme A dehydrogenase deficiency - caused by mutations in the ACADM gene
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More than 40 ACADM gene mutations that cause medium-chain acyl-coenzyme A dehydrogenase deficiency have been identified. Many of these mutations change one of the building blocks (amino acids) used to make the medium-chain acyl-CoA dehydrogenase enzyme. The most common change replaces the amino acid lysine with the amino acid glutamic acid at position 304 in the enzyme (written as Lys304Glu or K304E). This mutation and other amino acid substitutions alter the enzyme's structure, severely reducing or eliminating its activity. Other types of mutations lead to an abnormally small and unstable enzyme that cannot function.
With a shortage (deficiency) of functional medium-chain acyl-CoA dehydrogenase, medium-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 lack of energy (lethargy) and low blood sugar. Medium-chain fatty acids or partially metabolized fatty acids may accumulate in tissues and can damage the liver and brain, causing serious complications.
Where is the ACADM gene located?
Cytogenetic Location: 1p31
Molecular Location on chromosome 1: base pairs 75,962,869 to 76,001,770
The ACADM gene is located on the short (p) arm of chromosome 1 at position 31.
More precisely, the ACADM gene is located from base pair 75,962,869 to base pair 76,001,770 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ACADM?
What other names do people use for the ACADM gene or gene products?
- ACAD1
- ACADM_HUMAN
- MCAD
- MCADH
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 ACADM?
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.