What is Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)

Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) is a rare genetic disorder that affects the body's ability to break down certain fats for energy. It is an autosomal recessive disorder, meaning that both parents must carry the faulty gene for a child to be affected. LCAD deficiency leads to a deficiency of the enzyme very long chain acyl CoA dehydrogenase, which is responsible for breaking down long-chain fatty acids.

Individuals with LCAD deficiency may experience symptoms such as low blood sugar, muscle weakness, lethargy, and liver problems. These symptoms can be triggered by fasting or prolonged exercise, as the body is unable to efficiently use stored fats as an energy source. If left untreated, LCAD deficiency can lead to serious complications, including liver failure and sudden death.

Diagnosis of LCAD deficiency is typically done through genetic testing and analysis of blood samples. Treatment involves managing symptoms and preventing complications through a carefully controlled diet, avoiding fasting, and ensuring regular meals with a balance of nutrients.

Early detection and proper management can significantly improve the quality of life for individuals with LCAD deficiency, allowing them to lead relatively normal lives.