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Genetic and Rare Diseases Information Center (GARD)

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2,4-Dienoyl-CoA reductase deficiency


Other Names for this Disease

  • 2,4-alpha dienoyl-CoA reductase deficiency
  • Dienoyl-CoA reductase deficiency
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Overview

2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.[1]
Last updated: 3/17/2010

References

  1. 2,4-Dienoyl-CoA reductase deficiency. Newborn Screening Coding and Terminology Guide. September 14, 2009; http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/De-Red. Accessed 3/17/2010.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
Other Names for this Disease
  • 2,4-alpha dienoyl-CoA reductase deficiency
  • Dienoyl-CoA reductase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.