ACAD11
Description
The ACAD11 gene, located on chromosome 12, provides instructions for making a protein called very-long-chain acyl-CoA dehydrogenase (VLCAD). VLCAD plays a crucial role in breaking down very long-chain fatty acids, which are essential components of cell membranes and other important cellular structures. When fatty acids are broken down, they release energy that cells can use. This process, called beta-oxidation, occurs in the mitochondria, the powerhouses of cells. VLCAD is specifically responsible for the initial steps of beta-oxidation of very long-chain fatty acids. Mutations in the ACAD11 gene can lead to a deficiency in VLCAD activity, disrupting the breakdown of very long-chain fatty acids and potentially causing various health issues.
Associated Diseases
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD): A rare genetic disorder characterized by the inability to break down very long-chain fatty acids, leading to the accumulation of these fatty acids in the body. This can cause a wide range of symptoms, including muscle weakness, seizures, heart problems, and liver problems.
- Hypoglycemia: Low blood sugar levels can occur as a result of the body's inability to use stored fat for energy due to VLCAD deficiency.
Did you know?
VLCAD deficiency is often diagnosed in newborns who present with symptoms like lethargy, poor feeding, and vomiting. However, some individuals may not show symptoms until later in life.
