ACAD9 : acyl-CoA dehydrogenase family member 9
Understanding the ACAD9 Gene: A Key Player in Energy Metabolism
Description
The ACAD9 gene is responsible for producing the ACAD9 enzyme, found within mitochondria, the powerhouses of our cells. This enzyme plays a crucial role in the assembly of complex I, an essential component in oxidative phosphorylation, the process by which cells generate most of their energy.
Additionally, the ACAD9 enzyme participates in fatty acid oxidation, the breakdown of fats into energy. It specifically helps metabolize palmitate and oleate, two long-chain fatty acids that are a significant energy source for the heart and muscles. During fasting, fatty acids also sustain the liver and other tissues.
Associated Diseases
Mutations in the ACAD9 gene can cause several disorders, including:
- Long-chain acyl-CoA dehydrogenase deficiency (LCAD deficiency): A rare inherited disorder that impairs the breakdown of long-chain fatty acids, leading to serious health problems, including seizures, coma, and heart failure.
- Multiple acyl-CoA dehydrogenase deficiency (MADD): A complex disorder affecting multiple enzymes involved in fatty acid oxidation, including ACAD9. It can cause a range of symptoms, including muscle weakness, developmental delays, seizures, and intellectual disability.
- Isolated complex I deficiency (ICID): A disorder characterized by a deficiency of complex I in the mitochondria. It can cause a variety of symptoms, including seizures, muscle weakness, intellectual disability, and developmental delays.
Did you Know ?
Approximately 1 in 10,000 to 1 in 20,000 individuals worldwide is affected by LCAD deficiency, the most common disorder associated with ACAD9 mutations.
