2,4-dienoyl-coa reductase deficiency

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Will my child outgrow 2,4-dienyl-CoA reductase deficiency?

2,4-dienyl-CoA reductase deficiency is a genetic condition and there is no cure. A person will never outgrow the disorder. One infant had a change in the NADK2 gene. 2,4-dienyl-CoA reductase deficiency is classified as a fatty acid oxidation disorder (FOD) and a mitochondrial disorder. Because so few people have had the disorder, doctors do not know the best way to treat it. Doctors also don't know for sure what complications are associated with 2,4-dienyl-CoA reductase deficiency and making specific assessments about life expectancy are difficult.

References
  • 2,4-Dienoyl-CoA reductase deficiency; DECRD. The Online Mendelian Inheritance in Man (OMIM) website. https://www.omim.org/entry/616034
  • 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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Do people with 2,4-dienyl-CoA reductase deficiency have disability or learning problems?

Is there a patient registry for 2,4-dienyl-CoA reductase deficiency?

Are there school specific accommodations my child with 2,4-dienyl-CoA reductase deficiency may need?

I am a carrier of 2,4-dienyl-CoA reductase deficiency, will I develop symptoms?

What does a positive newborn screening mean for 2,4-dienyl-CoA reductase deficiency?

Is palliative care available for 2,4-dienyl-CoA reductase deficiency?

Where can I get financial help for 2,4-dienyl-CoA reductase deficiency?

Is there support for families whose child has died from 2,4-dienyl-CoA reductase deficiency?

How is 2,4-dienyl-CoA reductase deficiency classified?

Why can't I find information on 2,4-dienyl-CoA reductase deficiency?

What is the average life expectancy for someone with 2,4-dienyl-CoA reductase deficiency?

Do people with 2,4-dienyl-CoA reductase deficiency have disability or learning problems?

2,4-dienyl-CoA reductase deficiency has only been reported in a few patients. The disorder can cause severe neurological complications. This is called encephalopathy a broad term that describes damage to the brain or brain function. Because the disorder is so rare, doctors do not know what symptoms are common to this disorder, but they believe that the brain and central nervous system can be significantly involved.

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.
  • 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; DECRD. The Online Mendelian Inheritance in Man (OMIM) website. https://www.omim.org/entry/616034
Is there a patient registry for 2,4-dienyl-CoA reductase deficiency?

A patient registry is a database set up by researchers that contains information about patients with a particular disorder or group of disorders. This information helps researchers learn about a disorder, plan or study treatments, how a disorder progresses or affects people and other information. Patient registries require that patients either directly or through their doctor submit personal information. Talk to a genetic counselor about the pros or cons of participating in a patient registry. There is a patient registry for fatty oxidation disorders like 2,4-dienyl-CoA reductase deficiency.

References
  • Patient Registries. The National Center for Advancing Translational Science website. https://ncats.nih.gov/clinical/registries
  • The FOD Registry website
Are there school specific accommodations my child with 2,4-dienyl-CoA reductase deficiency may need?

2,4-dienyl-CoA reductase deficiency is an extremely rare disorder that has only been diagnosed in a few people. Doctors believe that neurological symptoms are common to this disorder. Neurological issues can affect children perform in school, although this depends on many factors.

All children with 2,4-dienyl-CoA reductase deficiency (even if they do not have any complications from the disorder) are eligible for a 504 plan. A 504 plan organizes any unique requests needed by a child to fully participate in school. This plan is important for making sure a student with 2,4-dienyl-CoA reductase deficiency can maintain their diet in school while fully participating in school with the same access to educational opportunities as all children. For example, children with 2,4-dienyl-CoA reductase deficiency need to avoid long periods of time without eating.

An individualized education plan (IEP) is a 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children.

Parents should talk to their child's school system and learn what they need to do for their children.

Parents are encouraged to provide a school with a packet of information on 2,4-dienyl-CoA reductase deficiency and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals. The FOD Family Support Group has information about how to handle school when your child has a fatty acid oxidation disorder like 2,4-dienyl-CoA reductase deficiency.

The U.S. Department of Education has information on individual education plans and on 504 plans. Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

References
  • The U.S. Department of Education website
  • Educational Info. The FOD Family Support Group website. http://www.fodsupport.org/educational.htm
I am a carrier of 2,4-dienyl-CoA reductase deficiency, will I develop symptoms?

Carriers of the NAD2K gene that causes 2,4-dienyl-CoA reductase deficiency do not develop symptoms of the disorder. They are at risk of passing 2,4-dienyl-CoA reductase deficiency on to their children if their partner is also a carrier. A genetic counselor in your area can help you understand more about your risk and the testing options for carriers.

References
  • If a genetic disorder runs in my family, what are the chances that my children will have the condition? The Genetics Home Reference website. https://ghr.nlm.nih.gov/primer/inheritance/riskassessment
  • 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
What does a positive newborn screening mean for 2,4-dienyl-CoA reductase deficiency?

If your baby receives a positive result for 2,4-dienyl-CoA reductase deficiency from newborn screening, it does not mean that your child definitely has the disorder. Newborn screening can cause "false positives." Further testing is needed to know for sure whether a child has 2,4-dienyl-CoA reductase deficiency. Organizations like Baby's First Test and Saving Babies Through Screening can provide information about newborn screening. A genetic counselor can help families understand the results of 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
  • The Saving Babies Through Screening website
Is palliative care available for 2,4-dienyl-CoA reductase deficiency?

Infants or children with 2,4-dienyl-CoA reductase deficiency may need palliative care. Palliative care ensures that a dying child is as pain free as possible and that all of their physical, social, emotional, and spiritual needs are met. Palliative care requires a close cooperation among family members, immediate relatives, and physicians, and other medical personnel. A primary care physician or local hospital may be able to offer advice and local resources for palliative care.

The International Children's Palliative Care Network has specific information and support for families considering palliative care for their children. Additionally, the Global Genes Organization has information on rare genetic conditions and palliative care. This information can be found at the Pediatric Palliative Care link.

The Fatty Oxidation Disorders Family Support Group offers grief support for parents and family members as well.

References
  • Global Genes website. https://globalgenes.org/toolkits/pediatric-care/intro/
  • The International Children's Palliative Care Network website. http://www.icpcn.org/
Where can I get financial help for 2,4-dienyl-CoA reductase deficiency?

The medical cost of 2,4-dienyl-CoA reductase deficiency can be significant. Some families lack the resources necessary to provide for a chronically ill or disabled child.

The Social Security Administration provides disability benefits for people who qualify. 2,4-dienyl-CoA reductase deficiency is not listed in the publication called the Disability Evaluation Under Social Security, also called the "Blue Book." However, people with this disorder can still qualify for assistance if they have certain symptoms that qualify.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

References
  • Financial Assistance Information. National Human Genome Research Institute website. https://www.genome.gov/11008842/
  • Other Financial Assistance. The National Organization for Rare Disorders website. http://rarediseases.org/for-patients-and-families/help-access-medications/financial-assistance/
  • Disability Evaluation Under Social Security. The Social Security Administration website. https://www.ssa.gov/disability/professionals/bluebook/AdultListings.htm
Is there support for families whose child has died from 2,4-dienyl-CoA reductase deficiency?

The FOD Family Support Group is a nonprofit organization that helps people who are affected by fatty acid oxidation disorders like 2,4-dienyl-CoA reductase deficiency. They offer support and counseling for parents who have lost a child to one of these disorders. There are organizations that specifically work with families who have lost a child including The Compassionate Friends and Bereaved Parents of the U.S.A.

References
  • The FOD Family Support Group website. http://www.fodsupport.org/grief.htm
  • The Compassionate Friends website. https://www.compassionatefriends.org/
  • The Bereaved Parents of the U.S.A. website. https://bereavedparentsusa.org/
How is 2,4-dienyl-CoA reductase deficiency classified?

2,4-dienyl-CoA reductase deficiency (DECRD) is classified as a fatty acid oxidation disorder or FOD. The FODs are a group of disorders that 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. A person with DECRD cannot break down certain fatty acids and this causes medical problems during illness or fasting.

DECRD is also classified as a mitochondrial disorder. These disorders involve the mitochondria, which are found cells throughout the body. Mitochondria produce as much as 90% of the energy used in the body. All fatty oxidation disorders are also considered mitochondrial disorders.

DECRD and all fatty oxidation disorders are also classified as inborn errors of metabolism. Inborn error of metabolism is a disorder where there is a problem with specific proteins or enzymes that are needed to breakdown substances in the body such as complex sugars or carbohydrates.

References
  • What is Mitochondrial Disease? The United Mitochondrial Disease Foundation website. https://www.umdf.org/what-is-mitochondrial-disease/
  • The FOD Family Support Group website. https://www.fodsupport.org/index.htm
Why can't I find information on 2,4-dienyl-CoA reductase deficiency?

2,4-dienyl-CoA reductase deficiency (DECRD) is an extremely rare disorder. Only a few people with the disorder have been talked about in the medical literature. 2,4-dienyl-CoA reductase deficiency is included in newborn screening tests in the United States since 2006, but no infants with the disorder have been reported in medical literature.

Because 2,4-dienyl-CoA reductase deficiency is so rare, doctors do not know very much about the disorder. They know that the disorder involves the use of fats to provide energy and problems with mitochondria, which are structures found in most cells that provide energy for the body.

If your infants receives a diagnosis of 2,4-dienyl-CoA reductase deficiency you talk to a metabolic geneticist and contact organizations that provide support for fatty acid oxidation or mitochondrial disorders because they may be able to put you in touch with doctors who specialize in these disorders.

The FOD Family Support Group and the United Mitochondrial Disease Foundation are two such organizations.

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
What is the average life expectancy for someone with 2,4-dienyl-CoA reductase deficiency?

2,4-dienyl-CoA reductase deficiency (DECRD) is an extremely rare disorder that has only been reported in a few people in the medical literature. Because so few people have been identified with the disorder, doctors do not know all of the signs and symptoms of the disorder. Because of its rarity, doctors are unable to say what an individual infant or child's life expectancy would be.

References
  • 2,4-Dienoyl-CoA reductase deficiency; DECRD. The Online Mendelian Inheritance in Man (OMIM) website. https://www.omim.org/entry/616034
  • 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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