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Diseases

Genetic and Rare Diseases Information Center (GARD)

2,4-Dienoyl-CoA reductase deficiency


Other Names for this Disease
  • Dienoyl-CoA reductase deficiency
  • 2,4-alpha 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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • Dienoyl-CoA reductase deficiency
  • 2,4-alpha 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.