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:
“It is easier to discover a deficiency in individuals, in states, and in Providence, than to see their real import and value.”
—Georg Wilhelm Friedrich Hegel (1770–1831)