2,4-dienoyl-CoA reductase deficiency

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.