ACADVL : acyl-CoA dehydrogenase very long chain

Title: The ACADVL Gene: A Vital Player in Energy Production and Metabolism

Description:

The human body is a complex machine, and its functioning relies on a symphony of genes and enzymes working together. Among these, the ACADVL gene stands out as a crucial player in energy production and metabolism. This informative blog post delves into the remarkable role of this gene and its associated diseases.

Associated Diseases:

Mutations in the ACADVL gene can lead to very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, a rare inherited disorder that disrupts the breakdown of very long-chain fatty acids (VLCFAs). This can result in a range of symptoms, including:

• Hypoglycemia (low blood sugar)
• Muscle weakness and fatigue
• Heart problems (cardiomyopathy)
• Liver failure

Did you Know ?

VLCAD deficiency is estimated to affect approximately 1 in 40,000 to 100,000 individuals worldwide. However, due to underdiagnosis and varying clinical presentations, the true prevalence may be higher.