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?
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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 (MCAD) deficiency 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?
The initial signs and symptoms of medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency typically occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, the first episode of problems related to MCAD deficiency occurs during adulthood. People with this disorder are also at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden unexpected death.
The signs and symptoms of MCAD deficiency can be triggered by periods of fasting or illnesses such as viral infections, particularly when eating is reduced.
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.
- 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.