2,4-dienoyl-coa reductase deficiency

Causes

What causes 2,4-dienyl-CoA reductase deficiency)?

2,4-dienyl-CoA reductase deficiency, or DECRD, is an extremely rare disorder only described in a few people. One infant had gene changes in the NADK2 gene. People have about 20,000-25,000 genes in their bodies. Our genes contain our body's genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly or be overproduced.

To find a medical professional nearby who can discuss information about gene changes in 2,4-dienyl-CoA reductase deficiency and the NADK2 gene, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • 2,4-Dienoyl-CoA reductase deficiency; DECRD. The Online Mendelian Inheritance in Man (OMIM) website. https://www.omim.org/entry/616034
  • Houten SM, Denis S, Te Brinke H, et al. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet. 2014;23(18):5009-16.

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