2,4-dienoyl-coa reductase deficiency

Overview

What is 2,4-dienyl-CoA reductase deficiency (DECRD)?

2,4-dienyl-CoA reductase deficiency (DECRD) is an extremely rare genetic condition that has only been described in a few people in the medical literature. One person with this disorder had a change in the NADK2 gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. The NADK2 gene produces an enzyme that has several functions in the body including roles in the breakdown of fats for energy and activating and stabilizing other enzymes. Only a handful of people have been described with this disorder, which means that doctors are still learning about the specific signs and symptoms associated with the disorder. Infants have developed hypotonia, in which the muscle tone is reduced. In severe instances, hypotonia makes a baby seems floppy, almost like a rag doll. Respiratory acidosis, in which the lungs cannot remove carbon dioxide efficiently from the body, has also been described. Infants may have problems feeding and may not grow or gain weight as expected, a condition called failure to thrive. Researchers believe that additional symptoms can develop.

DECRD is classified as a mitochondrial fatty acid oxidation disorder. Fatty acid oxidation disorders prevent a person's body from being able to break down a specific type of body fat to make energy. Most of the time, the body uses available fuels such as sugars to make energy. However, if a person is sick and not eating (fasting), dieting, or stressed, they may not be eating a normal amount of food to provide the body with those sugars. In these times, the body uses other sources of fuel such as fatty acids. If a person with DECRD cannot break down these fatty acids, this may cause medical problems during illness or fasting. DECRD is caused by a gene change in the NADK2 gene and is classified as a fatty oxidation disorder (FOD). In general. FODs can vary dramatically in how they affect a person. FODs like DECRD also involve the mitochondria, which are structures found in nearly all cells. They are called the "powerhouses" of the cells because they generate most of the energy used by the body. DECRD may cause problems normally associated with mitochondrial disorders.

The Fatty Oxidation Disorders Family Support Group and the United Mitochondrial Disease Foundation can provide information about these disorders.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/24-dienoyl-coa-reductase-deficiency/overview/61441 • DATE UPDATED: 2019-03-18

References

The Online Mendelian Inheritance in Man (OMIM) website. 2,4-Dienoyl-CoA reductase deficiency; DECRD

The Fatty Oxidation Disorders Family Support Group website. https://www.fodsupport.org/index.htm

McMillan JA, Feigin RD, DeAngelis CD, Douglas Jones Jr. M, eds. Oski's Pediatrics: Principles and Practice. 4th ed. Lippincott, Williams & Wilkins. Philadelphia, PA;2006:2179.

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.

Roe CR, Millington DS, Norwood DL, et al. 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. J Clin Invest. 1990;85(5):1703-7. https://www.ncbi.nlm.nih.gov/pubmed/2332510

2,4 Dienoyl-CoA Reductase Deficiency. Baby's First Test website. http://www.babysfirsttest.org/newborn-screening/conditions/24-dienoyl-coa-reductase-deficiency

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