Tags: Disease.
24 Dienoyl-CoA reductase deficiency is an inborn error of metabolism resulting in defective fatty acid oxidation caused by a deficiency of the enzyme 24 Dienoyl-CoA reductase. It is believed to be inherited in an autosomal recessive manner meaning an individual must inherit mutations in DECR1 located at 8q21.3 from both of their parents.24-Dienoyl-CoA reductase deficiency was initially described in 1990 based on a single case of a black female who presented with persistent hypotonia.