Very long chain acyl-CoA dehydrogenase deficiency

Very long chain acyl-CoA dehydrogenase deficiency, commonly known as VLCAD deficiency or VLCADD, is a rare inherited metabolic disorder. It affects the body's ability to break down certain long-chain fatty acids — a type of fat found in food and stored in the body — and turn them into energy. This process normally happens in the mitochondria, which are the energy-producing parts of cells. When the ACADVL gene is not working properly, the enzyme responsible for this step is missing or not working well enough, causing fatty acids to build up and energy production to fall short, especially during times of fasting, illness, or physical exercise. The condition can affect the heart, muscles, and liver. Symptoms can range from mild to life-threatening and often first appear in infancy or early childhood, though some people are not diagnosed until adulthood. Common problems include low blood sugar (hypoglycemia), muscle pain and weakness, heart problems, and liver enlargement. Newborn screening programs in many countries now detect VLCAD deficiency at birth, which has greatly improved outcomes. Treatment focuses on preventing the body from running out of energy. This means avoiding long periods without eating, following a low-fat diet with medium-chain fat supplements, and managing illness carefully. With proper management, many people with VLCAD deficiency can live healthy, active lives. However, the condition requires lifelong attention and monitoring.

Bring these to your next appointment

• Q1.What are the specific fasting limits for my child's age, and how should we handle illness or surgery?,How much MCT oil should we use, and how do we incorporate it into meals?,Should my child take triheptanoin (Dojolvi), and would they qualify for it?,What are the signs of a metabolic crisis, and when should we go to the emergency room versus manage at home?,Does my child need regular heart monitoring, and how often should we check liver and muscle enzyme levels?,Are there any restrictions on physical activity, and how can we safely support exercise?,Should other family members be tested, and what are the chances of future children being affected?

Common questions about Very long chain acyl-CoA dehydrogenase deficiency