Acyl-coa dehydrogenase, medium-chain, deficiency of
How do I find a center of excellence in medium-chain acyl-CoA dehydrogenase deficiency (MCAD)?
One of the best ways to find a treatment center such as a metabolic clinic or a physician with experience in treating medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is to contact a support group. The FOD Family Support Group, the Organic Acidemia Association, and the United Mitochondrial Disease Foundation are nonprofit support groups that offer support, guidance and assistance for people and families affected MCAD deficiency.
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What specialist doctors should I see if I have medium-chain acyl-CoA dehydrogenase deficiency (MCAD)?
Rare diseases like medium-chain acyl-CoA dehydrogenase (MCAD) deficiency can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a pediatric metabolic disease specialist; a liver disease specialist (hepatologist) who can assess and treat symptoms affecting the liver; a dietitian who ensure proper nutritional needs are met; and a genetic counselor who can help people understand the disease and the implications for the person and other family members.
Talk to your doctor about the best specialists in your area to follow an individual with MCAD deficiency.
- Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
- Medium Chain Acyl CoA Dehydrogenase Deficiency. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/