What is the prevalence of Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)?
How many people does Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) affect? Does it have the same prevalence in men and women? And in the different countries?
The prevalence of Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) is relatively rare. It is estimated to occur in approximately 1 in every 50,000 to 100,000 newborns. LCAD is an inherited metabolic disorder that affects the body's ability to break down certain fats for energy. It is caused by mutations in the ACADVL gene. Symptoms can vary widely, ranging from mild to severe, and may include low blood sugar, muscle weakness, and liver problems. Early diagnosis and management are crucial for individuals with LCAD to prevent complications and ensure proper treatment.
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 a mutated gene for their child to be affected. LCAD deficiency is caused by mutations in the ACADVL gene, which provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase.
The prevalence of LCAD deficiency is estimated to be around 1 in 50,000 to 1 in 100,000 individuals worldwide. However, the exact prevalence may vary among different populations. The disorder is more commonly observed in certain ethnic groups, such as the Old Order Amish population, where the prevalence is significantly higher.
LCAD deficiency can present with a range of symptoms, including low blood sugar, muscle weakness, liver problems, and heart abnormalities. Early diagnosis and management are crucial to prevent complications and improve outcomes. Treatment typically involves a specialized diet, including avoidance of fasting and supplementation with medium-chain triglycerides.
Research and advancements in genetic testing have contributed to a better understanding of LCAD deficiency, allowing for early detection and intervention. Ongoing efforts are focused on improving treatment options and providing support for individuals and families affected by this rare disorder.
