Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD deficiency) is a rare genetic disorder that affects the body's ability to break down certain fats. This condition is caused by mutations in the ACADVL gene, which is responsible for producing an enzyme needed to metabolize long-chain fatty acids. When this enzyme is deficient, the body cannot efficiently convert fats into energy, leading to a buildup of fatty acids in the body.
Symptoms of VLCAD deficiency can vary but often include low blood sugar, muscle weakness, and heart problems. Diagnosis typically involves blood tests and genetic testing to confirm the deficiency. Early detection and management, including dietary changes and supplements, can help prevent serious complications associated with this condition.