Acyl-coa dehydrogenase, very long-chain, deficiency of

Diagnosis and Testing

How do I get tested for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) is screened for in newborn screening programs. A child with an abnormal newborn screen for VLCADD or children and adults who show symptoms of VLCADD will have specialized tests performed. These may include blood and urine testing. Genetic testing for changes (mutations) in the ACADVL gene can confirm the diagnosis.

Tests on a sample of blood, skin cells, muscle, and/or liver tissue can determine how much of the protein that breaks down very long chain fatty acids is still active, which predicts how severe the symptoms will be.

The best person to figure out whether an individual has VLCADD is a doctor who specializes in metabolic disorders, such as a medical geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.

References
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Is there newborn testing for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

Is there more than one test for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

Who else in my family should be tested for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

If a child dies of SIDS or other unidentified cause, can testing for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) be done as part of the autopsy?

Is there newborn testing for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

All US states include Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) in their newborn screening programs. If you are concerned that your child may have VLCADD, you can speak with your child's pediatrician to review the newborn screening results.

References
Is there more than one test for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

Yes. There are 3 major kinds of testing for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD):

  • Newborn screening is done by testing for partially broken down fats (acylcarnitines) on a dried blood spot. This testing is performed in the first 24-48 hours of life. Unusual levels of these acylcarnitines indicate that further testing should be done and the child should be evaluated.
  • Testing to confirm the diagnosis and determine the severity is done in different ways. Blood and urine testing may be performed which can show specific patterns of fat breakdown that are seen in people who have VLCADD. There is testing for changes (mutations) in the gene called ACADVL which makes the VLCAD protein.
  • There is also testing to determine how active the enzyme or protein that breaks down very long chain fatty acids is. This testing can be done on blood, skin, liver or muscle tissue. This testing is not done as often anymore.

You can find additional information about available testing by searching in the Genetic Testing Registry: http://www.ncbi.nlm.nih.gov/gtr/

References
Who else in my family should be tested for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

If you have a child with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD), all your subsequent children should be tested for VLCADD at birth. In addition, it is possible that if you have other children, that they might also have VLCADD, even if they have not shown any symptoms. Ask your metabolic doctor about whether or not they should be tested. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.

References
  • Leslie ND, Valencia CA, Strauss AW, et al. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. 2009 May 28 [Updated 2014 Sep 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK6816/
If a child dies of SIDS or other unidentified cause, can testing for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) be done as part of the autopsy?

If a child dies of SIDS, testing for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) can be done as part of an autopsy. This testing should be considered in unexplained deaths of infants or children.

Testing for signs of VLCADD can be done on liver tissue, skin, plasma, or blood.

If these analyses show signs of VLCADD, genetic testing can be done on tissue samples and the newborn screening blood spot, if still available, can tested or retested.

You can find more information about autopsies for children who died of SIDS at http://sudc.org/.

References

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