Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is a rare genetic condition. SCAD results from a mutation or error in a person’s DNA or genes. Due to this mistake, people with SCAD have problems with breaking down certain fats properly. SCAD occurs when the body either does not make enough or makes non-working SCAD enzyme called short-chain acyl-CoA dehydrogenase. Enzymes are special proteins that help break down the food we eat into the pieces our body can use for energy. In this case, the job of the SCAD enzyme is to break down the very short-chain fatty acids, which are parts of the fat found in our food. A person with SCAD cannot use this type of fatty acid for energy because it can't break it down. This also causes a build-up of too many unused very short-chain fatty acids, which can be harmful to the body.
Each person with SCAD has a different experience and may never show any signs or symptoms. If the person shows signs, the symptoms of this condition may include irritability, sleeping longer or more than usual, vomiting, poor appetite, hyperactivity, fever, diarrhea, low blood sugar (hypoglycemia), trouble breathing, developmental delays, weak muscle tone (hypotonia), small head size, and behavior changes. If untreated, individuals are at risk for developing learning delays, seizures, muscle weakness, or liver trouble. Many of these complications can be prevented with early detection and lifelong management with a special diet and appropriate supplements. Many babies are screened for SCAD at birth so that treatment can begin early, however the conditions included in newborn screening differ from state to state. For more information, visit http://www.babysfirsttest.org. SCAD is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Also talk with your doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.