ACADVL (acyl-CoA dehydrogenase, very long chain) encodes the enzyme very long-chain acyl-CoA dehydrogenase (VLCAD), a critical protein in mitochondrial fatty acid β-oxidation. VLCAD specifically catalyzes the initial step of breaking down very long-chain fatty acids (14-20 carbons) into acetyl-CoA, generating energy during fasting or metabolic stress. Mutations in ACADVL lead to VLCAD deficiency (VLCADD), an autosomal recessive disorder characterized by impaired fatty acid oxidation, resulting in hypoglycemia, cardiomyopathy, skeletal myopathy, and hepatic dysfunction.
VLCAD antibodies are essential tools in research and diagnostics. They enable detection and quantification of VLCAD protein levels via techniques like Western blot, immunohistochemistry, or ELISA, aiding in confirming VLCADD diagnoses. These antibodies also help study tissue-specific expression patterns and assess residual enzyme activity in patients, guiding therapeutic strategies. Additionally, they are used to investigate disease mechanisms, such as the impact of ACADVL variants on protein stability or mitochondrial function.
Clinically, VLCAD antibodies support newborn screening programs by validating biochemical findings (e.g., elevated acylcarnitines). Research applications extend to evaluating enzyme replacement therapies or gene-editing approaches in preclinical models. As VLCADD management relies on dietary modifications and emergency protocols, understanding VLCAD expression through antibody-based assays remains vital for personalized patient care and advancing therapeutic development.