2,4-dienoyl-coa reductase deficiency

Diagnosis and Testing

How do I get tested for 2,4-dienyl-CoA reductase deficiency?

2,4-dienyl-CoA reductase deficiency is an extremely rare disorder that has only been identified in a few people. The disorder has been included in newborn 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 DECRD. During routine newborn screening, a tiny sample of blood is taken from the heel of a newborn. This test called a heel prick or Guthrie test involves getting a few drops of blood from a pinprick in the newborn's heel. The blood is run through a machine that can detect high levels of certain substances that abnormally builds up in people with 2,4-dienyl-CoA reductase deficiency.

If there is a positive result, your state will contact you set up additional testing to confirm a diagnosis. These tests involve looking at the blood and urine for substances that are abnormally elevated in 2,4-dienyl-CoA reductase deficiency. Because at least one person with 2,4-dienyl-CoA reductase deficiency had a gene change in the NADK2 gene, doctors may perform genetic testing to see if there are changes in this gene.

If you believe your child may have 2,4-dienyl-CoA reductase deficiency, talk to your pediatrician or a genetic counselor about your concerns. They can help decide if testing is right for you, and can order this testing if necessary.

References
  • Banta-Wright SA, Shelton KC, Bennett MJ. Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening. Newborn and Infant Nursing Reviews. 2008;8(1):18-29. http://digitalcommons.georgefox.edu/cgi/viewcontent.cgi?article=1003&context=sn_fac
  • 2,4 Dienoyl-CoA Reductase Deficiency. Baby's First Test website. http://www.babysfirsttest.org/newborn-screening/conditions/24-dienoyl-coa-reductase-deficiency
  • 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.
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More Diagnosis and Testing Content

Is there newborn testing for 2,4-dienyl-CoA reductase deficiency?

Who else in my family should I test for 2,4-dienyl-CoA reductase deficiency?

Can 2,4-dienyl-CoA reductase deficiency be detected before birth?

Is there newborn testing for 2,4-dienyl-CoA reductase deficiency?

2,4-dienyl-CoA reductase deficiency can be diagnosed through newborn screening. During routine newborn screening, a tiny sample of blood is taken from the heel of a newborn. This test called a heel prick or Guthrie test involves getting a few drops of blood from a pinprick in the newborn's heel. The blood is run through a machine that can detect high levels of acylcarnitines, a substance that abnormally builds up in fatty acid oxidation disorders like 2,4-dienyl-CoA reductase deficiency. Sometimes, newborn screening may miss an infant with a fatty oxidation disorder. Additional tests will be performed to confirm the diagnosis. These tests involve looking at the blood and urine for substances that are abnormally elevated or lowered in 2,4-dienyl-CoA reductase deficiency.

DE RED has been included in newborn 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 the disorder through newborn screening.

References
  • 2,4 Dienoyl-CoA Reductase Deficiency. Baby's First Test website. http://www.babysfirsttest.org/newborn-screening/conditions/24-dienoyl-coa-reductase-deficiency
  • Banta-Wright SA, Shelton KC, Bennett MJ. Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening. Newborn and Infant Nursing Reviews. 2008;8(1):18-29. http://digitalcommons.georgefox.edu/cgi/viewcontent.cgi?article=1003&context=sn_fac
  • De-Red - 2,4-Dienoyl-CoA reductase deficiency - Condition Details. Newborn Screening Coding and Terminology Guide. https://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/De-Red
  • 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.
Who else in my family should I test for 2,4-dienyl-CoA reductase deficiency?

In a family with a person with 2,4-dienyl-CoA reductase deficiency (DE RED), it may be possible for tests to be done to see whether other family members are carriers for the disorder. (Carriers do not have symptoms and have one working and one non-working copy of the altered gene that cause DE RED.) One infant with this disorder was shown to have a gene change in the NADK2 gene. If doctors can determine a change (mutation) in the NADK2 gene in a family, they can do genetic testing. Genetic testing on other family members would look for the specific gene changes in the NADK2 gene known to cause the disorder in that family. This will allow all siblings and other at-risk relatives to be tested. Doctors will also run blood and urine tests on at-risk family, which include all first-degree relatives. Blood and urine tests are used to detect substances that are abnormally elevated or lowered in people with DE RED.

A genetic counselor or a physician with experience in fatty acid oxidation disorders like DE RED can provide advice about how a confirmed diagnosis can affect other family members. Medical geneticists can be found through the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • 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.
  • 2,4-Dienoyl-CoA reductase deficiency; DECRD. The Online Mendelian Inheritance in Man (OMIM) website. https://www.omim.org/entry/616034
  • What are the types of genetic tests? The Genetics Home Reference website. https://ghr.nlm.nih.gov/primer/testing/uses
Can 2,4-dienyl-CoA reductase deficiency be detected before birth?

Sometimes, fatty oxidation disorders like 2,4-dienyl-CoA reductase deficiency (DE RED) can be detected before a baby is born. This is known as prenatal diagnosis. Because DE RED is so rare, it is unlikely for this to be done unless there is already a child diagnosed with the disorder in the family. Such a diagnosis may be possible through an enzyme assay on placental tissue or amniocytes. An assay is a test that measures the activity of an enzyme; in this instance, the activity of the 2,4-dienyl-CoA reductase enzyme. A sample of tissue can be taken from the placenta to test for the activity of this enzyme. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied for the activity of 2,4-dienyl-CoA reductase. If doctors know the gene change(s) that cause 2,4-dienyl-CoA reductase in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. There are risks to the unborn baby of doing these tests before birth. Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis.

References
  • What are the types of genetic tests? The Genetics Home Reference website. https://ghr.nlm.nih.gov/primer/testing/uses
  • Prenatal Tests. The March of Dimes website. http://www.marchofdimes.org/pregnancy/prenatal-tests.aspx

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