2,4 Dienoyl-CoA reductase deficiency
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2,4 Dienoyl-CoA reductase deficiency
| 2,4 Dienoyl-CoA reductase deficiency | |
|---|---|
| Classification and external resources | |
| OMIM | 222745 |
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.[1] Mutations in DECR1 (located on chromosome 8) are responsible for 2,4 dienoyl-CoA reductase deficiency.[2] When reported, this was the first case of an unsaturated fatty acid oxidation disorder.[1]
References
- ^ a b Roe, C. R.; Millington, D. S.; Norwood, D. L.; Kodo, N.; Sprecher, H.; Mohammed, B. S.; Nada, M.; Schulz, H. et al (1990). "2,4-Dienoyl-coenzyme a reductase deficiency: A possible new disorder of fatty acid oxidation". Journal of Clinical Investigation 85 (5): 1703–1707. doi:10.1172/JCI114624. PMC 296625. PMID 2332510. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=296625.
- ^ "2,4-DIENOYL-CoA REDUCTASE 1; DECR1". Johns Hopkins University. http://omim.org/entry/222745. Retrieved 2012-03-18.
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