What is Vlcad genetic disorder?
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare genetic disorder of fatty acid metabolism that is transmitted in an autosomal recessive pattern. It occurs when an enzyme needed to break down certain very long-chain fatty acids is missing or not working properly.
How is Vlcad diagnosis?
This testing may include specialized tests performed on a sample of blood, urine, skin cells , muscle, and/or liver tissue . Genetic testing for changes ( mutations ) in the ACADVL gene can confirm the diagnosis. GeneReview’s Web site offers more specific information about the diagnosis of VLCAD deficiency.
Why does MCAD deficiency cause hypoglycemia?
When you don’t have enough of the MCAD enzyme in your body, certain fats called medium-chain fatty acids can’t be broken down and converted to energy. This results in hypoglycemia and low energy. Also, fatty acids can build up in body tissues and cause damage to the liver and brain.
What are symptoms of VLCAD?
Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems.
Is VLCAD life-threatening?
Infants with the severest form of VLCAD deficiency develop symptoms within the first few months of life. This form of the disease can lead to problems with the heart muscle (cardiomyopathy) or heart rhythm (arrhythmia), which can be life-threatening.
What do you eat when you have VLCAD?
Children with VLCAD should have a starchy snack (such as bread, cereal, and rice) before bed and another during the night. They need another snack first thing in the morning. Raw cornstarch mixed with water, milk, or other drink is a good source of long- lasting energy.
What is the life expectancy of someone with VLCAD?
Life Expectancy for Adults with VLCAD When this occurs, the adults are typically less likely to experience these life-threatening issues and are able to live mostly normal lives. Unfortunately, heart problems and low blood sugar issues related to this disorder can occur at any age and can still be life-threatening.
Can you live a normal life with VLCAD?
If untreated, VLCAD can cause brain damage and even death. However, if the condition is detected early in life and proper treatment is begun, individuals affected with VLCAD often can lead healthy lives.
Can MCADD be cured?
There’s no specific treatment for MCADD. A specialist care team will give you advice about how to look after your child and support them as they get older.