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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Medium-chain acyl-coenzyme A dehydrogenase deficiency


Other Names for this Disease

  • ACADM deficiency
  • Acyl-CoA dehydrogenase medium chain deficiency of
  • MCAD deficiency
  • MCADD
  • MCADH deficiency
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Inheritance

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How is medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency inherited?

Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. Usually, the parents of a person with an autosomal recessive condition each have one mutated copy of the gene and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition.[1]

When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
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.


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