Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic condition resulting from a mutation (change) in a person’s DNA. Due to this change, people with VLCAD have problems breaking down certain fats properly. VLCAD occurs when the body either does not make enough or makes non-working enzyme called very long-chain acyl-CoA dehydrogenase. Enzymes are 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 VLCAD enzyme is to break down the very long-chain fatty acids, which are parts of the fat from our food. These fatty acids are important energy sources when there are not enough sugars in the body, such as in between meals. A person with VLCAD 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 long-chain fatty acids, which can be harmful to the body.
Those affected by VLCAD can show symptoms any time between infancy and adulthood. Symptoms include irritability, sleeping more than usual, tiredness, vomiting, poor appetite, fever, diarrhea, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and behavior changes. If untreated, individuals may develop breathing problems, seizures, brain damage, and coma. Many of these complications can be prevented with early detection and lifelong management with special diet and supplements. Many babies are screened for VLCAD at birth so that treatment can begin early, but the conditions included in newborn screening vary by state. For more information, visitBaby’s First Test. . VLCAD is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Talk with your doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.