acyl-CoA dehydrogenase, short/branched chain
The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase, which plays an important role in processing proteins. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for the body. In cells throughout the body, 2-methylbutyryl-CoA dehydrogenase is found within specialized structures called mitochondria. Mitochondria convert energy from food to a form that cells can use.
The 2-methylbutyryl-CoA dehydrogenase enzyme helps break down a particular amino acid called isoleucine. Specifically, this enzyme helps with the third step of the process, performing a chemical reaction that converts a molecule called 2-methylbutyryl-CoA to another molecule, tiglyl-CoA. Additional chemical reactions convert tiglyl-CoA into molecules that are used for energy.
Researchers have identified more than 10 ACADSB gene mutations in people with 2-methylbutyryl-CoA dehydrogenase deficiency. While most people with this condition have no related health problems, some have reduced energy (lethargy), muscle weakness, seizures, developmental delays, or other health problems.
Many of the ACADSB gene mutations replace one of the amino acids in the 2-methylbutyryl-CoA dehydrogenase enzyme with an incorrect amino acid. Other mutations lead to an abnormally small version of this enzyme that is missing several amino acids. As a result of these mutations, 2-methylbutyryl-CoA dehydrogenase has little or no activity. With a shortage (deficiency) of normal enzyme activity, the body is unable to break down isoleucine properly. Researchers speculate that some features of this disorder, such as lethargy and muscle weakness, occur because isoleucine is not converted to energy. In addition, impairment of 2-methylbutyryl-CoA dehydrogenase may allow the buildup of toxic compounds, which can lead to serious health problems.
- 2-methyl branched chain acyl-CoA dehydrogenase
- short/branched chain acyl-CoA dehydrogenase