2,4 Dienoyl-CoA reductase deficiency is a fatty acid oxidation disorder caused by a deficiency of the enzyme 2,4 Dienoyl-CoA reductase. The condition was first reported in a single infant presenting with persistent hypotonia. Mutations in DECR1 (located on chromosome 8) are responsible for 2,4 dienoyl-CoA reductase deficiency. When reported, this was the first case of an unsaturated fatty acid oxidation disorder.
Famous quotes containing the word deficiency:
“Shakespeare’s fault is not the greatest into which a poet may fall. It merely indicates a deficiency of taste.”
—Denis Diderot (1713–1784)