Short-chain Acyl-coenzyme A Dehydrogenase Deficiency - Cause and Genetics

Cause and Genetics

SCADD is caused by mutations in the ACADS gene, located on chromosome 12q22-qter. Mutations in the ACADS gene lead to inadequate levels of an enzyme called short-chain acyl-CoA dehydrogenase, which is important for the breakdown of short-chain fatty acids. Reduced levels of this enzyme prevent short-chain fatty acids from being further broken down and processed in the mitochondria (the energy-producing centers inside cells). As a result, these short-chain fatty acids are not converted into energy, which can lead to the signs and symptoms of this disorder, such as lethargy and hypoglycemia.

The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 12 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.