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:
“If a man is a good lawyer, a good physician, a good engineer ... he may be a fool in every other capacity. But no deficiency or mistake of judgment is forgiven to a woman ... and should she fail anywhere, if she has any scientific attainment, or artistic faculty, instead of standing her interest as an excuse, it is censured as an aggravation and offence.”
—E.P.P., U.S. women’s magazine contributor. The Una, p. 28 ( February 1855)