What is Medium Chain Acyl-CoA Dehydrogenase Deficiency?
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a treatable inherited disease in which the body cannot turn certain fatty acids into energy due to a deficient enzyme. As a result, partially metabolized fatty acids can accumulate in body tissues, causing damage to the brain, liver, and other organs. If treated early and consistently, people with MCAD deficiency can live normal lives.
Children with untreated MCAD deficiency are prone to quick-developing, life-threatening health problems including seizures, breathing problems, brain damage, coma, and death. The liver may also be enlarged. It is thought that a small percentage of sudden infant death syndrome is due to undiagnosed MCAD deficiency.
The first symptoms of the disease usually appear in infancy or early childhood. These include vomiting, lack of energy, and low blood sugar. Rarely, these symptoms do not appear until adulthood. Often the episodes of metabolic crisis can be triggered by long periods without eating or by illness.
Women whose fetuses have MCAD deficiency are more prone to certain pregnancy complications and should speak with their physician.
How Common is Medium Chain Acyl-CoA Dehydrogenase Deficiency?