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- 2,4_Dienoyl-CoA_reductase_deficiency abstract "2,4 Dienoyl-CoA reductase deficiency is an inborn error of metabolism resulting in defective fatty acid oxidation caused by a deficiency of the enzyme 2,4 Dienoyl-CoA reductase. It is believed to be inherited in an autosomal recessive manner, meaning an individual must inherit mutations in DECR1, located at 8q21.3 from both of their parents.2,4-Dienoyl-CoA reductase deficiency was initially described in 1990 based on a single case of a black female who presented with persistent hypotonia. Laboratory investigations revealed elevated lysine, low levels of carnitine and an abnormal acylcarnitine profile in urine and blood. The abnormal acylcarnitine species was eventually identified as 2-trans,4-cis-decadienoylcarnitine, an intermediate of linoleic acid metabolism. The index case died of respiratory failure at four months of age. Postmortem enzyme analysis on liver and muscle samples revealed decreased 2,4-dienoyl-CoA reductase activity when compared to normal controls.2,4-Dienoyl-CoA reductase deficiency was included as a secondary condition in the American College of Medical Genetics Recommended Uniform Panel for newborn screening. Its status as a secondary condition means there was not enough evidence of benefit to include it as a primary target, but it may be detected during the screening process or as part of a differential diagnosis when detecting conditions included as primary target. Despite its inclusion in newborn screening programs in several states for a number of years, no additional cases have been identified.".
- 2,4_Dienoyl-CoA_reductase_deficiency omim "222745".
- 2,4_Dienoyl-CoA_reductase_deficiency wikiPageID "3911162".
- 2,4_Dienoyl-CoA_reductase_deficiency wikiPageRevisionID "583992016".
- 2,4_Dienoyl-CoA_reductase_deficiency hasPhotoCollection 2,4_Dienoyl-CoA_reductase_deficiency.
- 2,4_Dienoyl-CoA_reductase_deficiency name "24".
- 2,4_Dienoyl-CoA_reductase_deficiency omim "222745".
- 2,4_Dienoyl-CoA_reductase_deficiency wordnet_type synset-disease-noun-1.
- 2,4_Dienoyl-CoA_reductase_deficiency subject Category:Fatty-acid_metabolism_disorders.
- 2,4_Dienoyl-CoA_reductase_deficiency subject Category:Inborn_errors_of_metabolism.
- 2,4_Dienoyl-CoA_reductase_deficiency type Disease.
- 2,4_Dienoyl-CoA_reductase_deficiency type AilmentCondition.
- 2,4_Dienoyl-CoA_reductase_deficiency type Situation.
- 2,4_Dienoyl-CoA_reductase_deficiency comment "2,4 Dienoyl-CoA reductase deficiency is an inborn error of metabolism resulting in defective fatty acid oxidation caused by a deficiency of the enzyme 2,4 Dienoyl-CoA reductase. It is believed to be inherited in an autosomal recessive manner, meaning an individual must inherit mutations in DECR1, located at 8q21.3 from both of their parents.2,4-Dienoyl-CoA reductase deficiency was initially described in 1990 based on a single case of a black female who presented with persistent hypotonia.".
- 2,4_Dienoyl-CoA_reductase_deficiency label "2,4 Dienoyl-CoA reductase deficiency".
- 2,4_Dienoyl-CoA_reductase_deficiency sameAs m.0b6fht.
- 2,4_Dienoyl-CoA_reductase_deficiency sameAs Q4596783.
- 2,4_Dienoyl-CoA_reductase_deficiency sameAs Q4596783.
- 2,4_Dienoyl-CoA_reductase_deficiency wasDerivedFrom 2,4_Dienoyl-CoA_reductase_deficiency?oldid=583992016.
- 2,4_Dienoyl-CoA_reductase_deficiency isPrimaryTopicOf 2,4_Dienoyl-CoA_reductase_deficiency.
- 2,4_Dienoyl-CoA_reductase_deficiency name "2,4 Dienoyl-CoA reductase deficiency".