What causes VLCAD deficiency ?
What causes VLCAD deficiency? VLCAD deficiency is caused by changes (mutations) in the ACADVL gene. This gene encodes an enzyme that is required for the proper break down (metabolism) of a certain group of fats called very long-chain fatty acids. Mutations in the ACADVL gene lead to reduced levels of this enzyme which prevents the proper metabolism of these fats. Because very long-chain fatty acids are an important source of energy, particularly for the heart and muscles, this may result in certain symptoms such as lethargy and hypoglycemia. Fats that are not properly broken down can also build-up and damage tissues such as the heart, liver, and muscles, which can cause the other features seen in people with VLCAD deficiency.