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Genetics Home Reference: your guide to understanding genetic conditions
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ACADM

Reviewed November 2009

What is the official name of the ACADM gene?

The official name of this gene is “acyl-CoA 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-CoA dehydrogenase (MCAD). This enzyme functions within mitochondria, the energy-producing centers in cells. MCAD is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them to energy.

MCAD is required to metabolize a group of fats called medium-chain fatty acids. These fatty acids are found in foods and body fat and are produced when larger fatty acids are metabolized. 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 ACADM gene related to health conditions?

medium-chain acyl-CoA dehydrogenase deficiency - caused by mutations in the ACADM gene

More than 80 mutations in the ACADM gene have been found to cause medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Many of these mutations change single protein building blocks (amino acids) in the MCAD 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 MCAD enzyme, medium-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to some features of this disorder such as lack of energy (lethargy) and low blood sugar (hypoglycemia). Medium-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver and brain. This abnormal buildup causes the other signs and symptoms of MCAD deficiency.

Where is the ACADM gene located?

Cytogenetic Location: 1p31

Molecular Location on chromosome 1: base pairs 75,724,346 to 75,763,678

The ACADM gene is located on the short (p) arm of chromosome 1 at position 31.

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 75,724,346 to base pair 75,763,678 on chromosome 1.

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 ACADM?

You and your healthcare professional may find the following resources about ACADM 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 ACADM gene or gene products?

  • ACAD1
  • ACADM_HUMAN
  • MCAD
  • MCADH

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 ACADM?

acids ; amino acid ; CoA ; coenzyme A ; deficiency ; dehydrogenase ; enzyme ; fasting ; fatty acids ; gene ; glutamic acid ; hypoglycemia ; lethargy ; lysine ; mitochondria ; mutation ; 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

  • OMIM: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN (http://omim.org/entry/607008)
  • 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)
  • Hsu HW, Zytkovicz TH, Comeau AM, Strauss AW, Marsden D, Shih VE, Grady GF, Eaton RB. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Pediatrics. 2008 May;121(5):e1108-14. doi: 10.1542/peds.2007-1993. (http://www.ncbi.nlm.nih.gov/pubmed/18450854?dopt=Abstract)
  • Maier EM, Gersting SW, Kemter KF, Jank JM, Reindl M, Messing DD, Truger MS, Sommerhoff CP, Muntau AC. Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. Hum Mol Genet. 2009 May 1;18(9):1612-23. doi: 10.1093/hmg/ddp079. Epub 2009 Feb 18. (http://www.ncbi.nlm.nih.gov/pubmed/19224950?dopt=Abstract)
  • Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, v Kries R, Roscher AA. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2005 May;25(5):443-52. (http://www.ncbi.nlm.nih.gov/pubmed/15832312?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/34)
  • Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, Wilcken B. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab. 2006 Jan;87(1):32-9. Epub 2005 Nov 15. (http://www.ncbi.nlm.nih.gov/pubmed/16291504?dopt=Abstract)
  • Wang SS, Fernhoff PM, Hannon WH, Khoury MJ. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med. 1999 Nov-Dec;1(7):332-9. (http://www.ncbi.nlm.nih.gov/pubmed/11263545?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: October 27, 2014