2,4 Dienoyl-CoA reductase deficiency

DECRD Dienoyl-CoA reductase reaction cis.svg Reaction catalyzed by 2,4-dienoyl-CoA reductase (EC 1.3.1.34) on (2E,4Z)-dienoyl-CoA. Medical genetics 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. Lysine degradation is also affected in this disorder leading to hyperlysinemia. The disorder is inherited in an autosomal recessive manner, meaning an individual must inherit mutations in NADK2, located at 5p13.2 from both of their parents. 222745 2,4-DIENOYL-CoA REDUCTASE 1; DECR1 https://www.omim.org/entry/222745 2013-12-01 Johns Hopkins University NADK2 encodes the mitochondrial NAD kinase. A defect in this enzyme leads to deficient mitochondrial nicotinamide adenine dinucleotide phosphate levels. 2,4 Dienoyl-CoA reductase, but also lysine degradation are performed by NADP-dependent oxidoreductases explaining how NADK2 deficiency can lead to multiple enzyme defects.Houten Sander Simone Denis Heleen te Brinke Aldo Jongejan Antoine H.C. van Kampen Edward J. Bradley Frank Baas Raoul C.M. Hennekam David S. Millington Sarah P. Young Dianne M. Frazier Muge Gucsavas-Calikoglu Ronald J.A. Wanders Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia Human Molecular Genetics 2014 23 18 10.1093/hmg/ddu218 5009–5016 24847004 free 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.Morris Andrew A.M. Spiekerkoetter Ute Jean-Marie Saudubray Georges van den Berghe John H. Walter Inborn Metabolic Diseases: Diagnosis and Treatment 5th 2012 Springer New York 978-3-642-15719-6 201–216 Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways Postmortem enzyme analysis on liver and muscle samples revealed decreased 2,4-dienoyl-CoA reductase activity when compared to normal controls. A second case with failure to thrive, developmental delay, lactic acidosis and severe encephalopathy was reported in 2014. 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. Watson M. S. Mann M. Y. Lloyd-Puryear M. A. Rinaldo P. Howell R. R. Executive Summary 10.1097/01.gim.0000223891.82390.ad Genetics in Medicine 8 Suppl 1 1S–252S 2006 16783161 3111605 American College of Medical Genetics Newborn Screening Expert Group Newborn screening: Toward a uniform screening panel and system--executive summary Pediatrics 117 5 Pt 2 S296–S307 10.1542/peds.2005-2633I 2006 16735256 free Despite its inclusion in newborn screening programs in several states for a number of years, no cases have been identified via neonatal screening.2,4-Dienoyl-CoA Reductase Deficiency https://www.babysfirsttest.org/newborn-screening/conditions/24-dienoyl-coa-reductase-deficiency Baby's First Test 2013-12-30 References External links 8E4Y G31.8 616034 C565624 444944006 10327 Progressive encephalopathy with leukodystrophy due to DECR deficiency 431361 Q4596783 Category:Fatty-acid metabolism disorders Category:Inborn errors of metabolism