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2,4 Dienoyl-CoA reductase deficiency

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Also known as:
  • DE RED
  • 2,4-Dienoyl-coenzyme A reductase deficiency
  • 4-enoyl-CoA reductase
  • DECR
  • De-Red
  • dienoyl-CoA reductase deficiency

2,4 Dienoyl-CoA reductase deficiency (DE RED) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected with DE RED are unable to change some of the fats they eat into the energy the body needs to function. DE RED can cause weak muscle tone and can lead to the presence of too much acid in the blood. The effectiveness of treatment is currently unknown.

Follow-Up Testing

Your baby’s doctor may ask you if your baby is showing any of the signs of DE RED (see Early Signs below).If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment. 

If your baby’s newborn screening result for 2,4 Dienoyl-CoA reductase deficiency (DE RED) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your baby to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, as a few babies do have the condition, it is very important that you go to your follow-up appointment for a confirmatory test. Because the harmful effects of untreated DE RED can occur soon after birth, follow-up testing must be completed as soon as possible to determine whether or not your baby has the condition. 

Follow-up testing will involve checking your baby’s urine and blood samples for harmful amounts of acids and toxins. Certain acids and toxins build up in the body when a child has a fatty acid oxidation condition, so studying the amounts of these substances in your baby’s body can help doctors determine if your baby has a condition. In one reported case of DE RED, high levels of lysine in the blood and the presence of 2-trans,4-cis-decadienoylcarnitine in the blood and urine were associated with DE RED. Follow-up testing will probably also include testing a very small sample of skin. 


About 2,4 Dienoyl-CoA reductase deficiency

Early Signs

2,4 Dienoyl-CoA reductase deficiency (DE RED) has only ever been reported once. From birth, this baby had signs including: 

  • Small body and head size
  • Short torso, arms, and fingers
  • Weak muscle tone (known as hypotonia)
  • Poor appetite
  • Vomiting
  • Irritability
  • Delayed weight gain
Treatment
Dietary Treatments

In the single case of 2,4 Dienoyl-CoA reductase deficiency (DE RED), the baby was treated with a low-lysine formula. Lysine is a building block of proteins. The baby who had this disorder had dangerously high levels of this substance in her blood.

Supplements and Medications 

This baby was also treated with carnitine supplements. Carnitine is a natural substance made by the body, but babies with DE RED might not make enough of it. Carnitine supplements help the body break down fats for energy and get rid of harmful substances that may build up. Your baby’s doctor needs to write a prescription for these supplements. 

Expected Outcomes

There has only been one reported case of 2,4 Dienoyl-CoA reductase deficiency (DE RED). In this case, the baby died at four months of age. 

Causes

When we eat food, enzymes help break it down. Some enzymes break down fats into their building blocks, called fatty acids. Other enzymes break down these fatty acids. The enzyme 2,4 dienoyl-CoA reductase helps break down unsaturated fatty acids.

In 2,4 Dienoyl-CoA reductase deficiency (DE RED), the body may either not make enough or make non-working 2,4 dienoyl-CoA reductase. When this happens, the body cannot fully break down unsaturated fatty acids. This causes harmful substances to build up in the body. 

DE RED is most likely an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for DE RED, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with DE RED is rare, when both parents are carriers, they can have more than one child with the condition. Learn more about autosomal recessive inheritance.


Support for 2,4 Dienoyl-CoA reductase deficiency

Support Services

Support groups can help connect families who have a child or other family member affected with DE RED with a supportive community of people who have experience and expertise in living with similar genetic conditions and fatty acid oxidation conditions. These organizations offer resources for affected individuals and their families, as well as for health care providers.

Accessing Care

Work with your baby’s health care provider to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a physician specializing in metabolism, a dietician who can help plan your child’s specialized diet, or other medical resources in your community. 

Because 2,4 Dienoyl-CoA reductase deficiency (DE RED) is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for DE RED, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good resources for you and your baby’s health care provider to use to identify local specialists. 

Families' Experiences

At this time we have not located a family story for this particular condition. If your family is affected by 2,4 dienoyl-CoA reductase deficiency (DE RED) and you would like to share your story, please contact us so other families may benefit from your experience.

Each family's experience with a condition is unique, but there are some parts of the evaluation and treatment of DE RED that are similar to other fatty acid oxidation conditions. You may find it useful to read the stories of families affected by other fatty acid oxidation conditions on the family story page of the FOD Family Support Group website.


States Screening for 2,4 Dienoyl-CoA reductase deficiency

State Screens for this condition?
Alaska No
Arizona No
Arkansas No
Connecticut Yes
District of Columbia Yes
Illinois Yes
Indiana Yes
Iowa No
Maine No
Maryland Yes
Massachusetts No
Michigan Yes
Minnesota Yes
Mississippi Yes
Missouri Yes
New Jersey Yes
New York Yes
South Carolina Yes
Tennessee Yes
Utah No
Washington No
Wisconsin Yes
Wyoming No

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