Medium-chain acyl-coenzyme A dehydrogenase deficiency
Other Names for this Disease
- ACADM deficiency
- Acyl-CoA dehydrogenase medium chain deficiency of
- MCAD deficiency
- MCADH deficiency
Your QuestionMy sister's daughter (my niece) recently had a baby and he was diagnosed with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. If this condition is traced back to my sister, is it important for me and/or my children (ages 8 and 11) to be tested?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency?
- What are the signs and symptoms of medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency?
- What causes medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency?
- How is medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) diagnosed?
- How is medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency inherited?
- What risks are posed to other members of an affected individual's family?
- Where can I learn more about the risks posed to my family members and the importance of genetic testing?
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.
Your family may benefit from consulting with a genetics professional who can help to determine who may be at risk for medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and who warrants further testing. Genetics clinics are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.
The following online resources can also help you find a genetics professional in your community:
* GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
* Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
- Medium-chain acyl-coenzyme A dehydrogenase deficiency. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=mediumchainacylcoenzymeadehydrogenasedeficiency. Accessed 2/4/2011.
- 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.
- Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews. February 3, 2005; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mcad#mcad. Accessed 2/4/2011.