2,4-dienoyl-CoA reductase deficiency

Common Name(s)

2,4-dienoyl-CoA reductase deficiency, Dienoyl-CoA reductase deficiency, DE RED, 2,4-Dienoyl-coenzyme A reductase deficiency, 4-enoyl CoA reductase deficiency, DECR

2,4-dienoyl-CoA reductase deficiency (DE RED) is a rare genetic disorder caused by a mutation (change) to the NADK2 gene. DE RED prevents the body from being able to break down fats. Fats are broken down by an enzyme (type of protein) called 2,4-dienoyl-CoA reductase (DECR). DECR needs another molecule called NADP to help start the process. And NADP is made by another enzyme called NAD kinase. When there is a mutation in the NADK2 gene, NAD kinase and NADP aren’t made, which means DECR can’t work either. Therefore, a mutation in the NADK2 gene stops fat from being broken down. This kind of disorder is called a fatty acid oxidation disorder.

When the body doesn’t break down fats, it doesn’t get enough energy to maintain the muscles of the body. Resulting symptoms include weak muscle tone (hypotonia), decreased weight gain, small stature, and poor appetite. The symptoms of DE RED are present at birth. Researchers suspect that DE RED is an autosomal recessive condition. This means that a person can be healthy with one mutated copy of the NADK2 gene. People with only one mutated copy of a gene are called carriers. Any children of two carriers have a one in four chance of having the disease.

A diagnosis of DE RED is possible through genetic testing of a blood or saliva sample. This test looks for a mutation in the NADK2 gene. Researchers are trying to understand exactly how DECR works in order to find an effective treatment for DE RED. Many babies are screened for DE RED at birth so that treatment can begin early, however the conditions included in newborn screening differ from state to state. For more information, visit Baby’s First Test. Talk with your baby’s doctor about the most current treatment options. Genetic counselors and support groups are also a good sources of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "2,4-dienoyl-CoA reductase deficiency" for support, advocacy or research.

FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

Last Updated: 28 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "2,4-dienoyl-CoA reductase deficiency" for support, advocacy or research.

FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

https://fodsupport.org/

Last Updated: 28 Jul 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "2,4-dienoyl-CoA reductase deficiency" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "2,4-dienoyl-CoA reductase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.