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.
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
More Overview Content
Are there other names for 2,4-dienyl-CoA reductase deficiency?
How common is 2,4-dienyl-CoA reductase deficiency?
What is the usual abbreviation for 2,4-dienyl-CoA reductase deficiency?
Are there other names for 2,4-dienyl-CoA reductase deficiency?
2,4-dienyl-CoA reductase deficiency is an extremely rare disorder. It is classified as a fatty oxidation disorder or FOD and a mitochondrial disorder. Because the name is difficult for some people to say or remember, some doctors use an acronym to refer to the disorder. DE RED is a common acronym for 2,4-dienyl-CoA reductase deficiency. Some medical sources use the acronym DE RED. Other names include:
- 2,4-Dienoyl-coenzyme A reductase deficiency
- 4-enoyl-CoA reductase
- DECR
- De-Red
- Dienoyl-CoA reductase deficiency
- Mitochondrial 2,4-dienyl-CoA reductase deficiency
References
- 2,4-Dienoyl-CoA reductase deficiency; DECRD. The Online Mendelian Inheritance in Man (OMIM) website. https://www.omim.org/entry/616034
- 2,4 Dienoyl-CoA Reductase Deficiency. Baby's First Test website. http://www.babysfirsttest.org/newborn-screening/conditions/24-dienoyl-coa-reductase-deficiency
How common is 2,4-dienyl-CoA reductase deficiency?
2,4-dienyl-CoA reductase deficiency or DE RED is an extremely rare disorder. Only a handful of people have been described in the medical literature with this disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the amount of new people with a disorder or newly-diagnosed. DE RED has been included in screening programs in the United States since 2006. In a 2014 journal (Houten et al.), the authors stated that they were unaware of any infants being identified with DE RED.
References
- Kahler SG. Metabolic Myopathies. In: Hoffman GF, Zschocke J, Nyhan WL, eds. Inherited Metabolic Diseases: A Clinical Approach. 2nd ed. Berlin, Germany: Springer; 2017:293-312.
- 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.
What is the usual abbreviation for 2,4-dienyl-CoA reductase deficiency?
There are a few different abbreviations that can be used for 2,4-dienyl-CoA reductase deficiency. These include DE RED, DECRD, or DECR.
References
- 2,4-Dienoyl-CoA reductase deficiency; DECRD. The Online Mendelian Inheritance in Man (OMIM) website. https://www.omim.org/entry/616034
- 2,4 Dienoyl-CoA Reductase Deficiency. Baby's First Test website. http://www.babysfirsttest.org/newborn-screening/conditions/24-dienoyl-coa-reductase-deficiency
