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Diseases

Genetic and Rare Diseases Information Center (GARD)

Medium-chain acyl-coenzyme A dehydrogenase deficiency


Other Names for this Disease
  • ACADM deficiency
  • Acyl-CoA dehydrogenase medium chain deficiency of
  • Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
  • MCAD deficiency
  • MCADD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). 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. People with MCADD do not have enough of an enzyme needed for the step that metabolizes a group of fats called medium-chain fatty acids. MCADD is caused by mutations in the ACADM gene and is inherited in an autosomal recessive manner.[1] Treatment includes avoidance of fasting and of medium chain triglycerides in the diet.[2]
Last updated: 7/7/2014

References

  1. Medium-chain acyl-coenzyme A dehydrogenase deficiency. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=mediumchainacylcoenzymeadehydrogenasedeficiency. Accessed 2/4/2011.
  2. Simon Olpin. Medium chain acyl-CoA dehydrogenase deficiency. Orphanet. February, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=42. Accessed 7/7/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Medium-chain acyl-coenzyme A dehydrogenase deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Medium-chain acyl-coenzyme A dehydrogenase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ACADM deficiency
  • Acyl-CoA dehydrogenase medium chain deficiency of
  • Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
  • MCAD deficiency
  • MCADD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.