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

Treatment

What are the first steps after a newborn screening is positive for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

If a newborn screening result suggests Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD), the child should be evaluated for signs of the disease. This evaluation should be performed as soon as possible by a physician. The family may be referred to a local emergency room for evaluation. Signs of VLCADD include poor feeding, low energy, sleepiness, low tone, large liver, heart rhythm problems. If any of these signs are present, treatment should start immediately.

The family should be educated about the importance of regular feeding and the importance of seeking treatment immediately if the child becomes ill (poor feeding, vomiting, low energy).

Because newborn screening is not diagnostic, further testing will be performed to confirm the diagnosis. Follow-up testing to confirm the diagnosis should be done regardless of whether the child has symptoms.

To learn more, you can speak to your child's pediatrician and the newborn screening follow up program about what to do if your child's newborn screen is positive for a metabolic disorder.

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.

A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/acyl-coa-dehydrogenase-very-long-chain-deficiency-of/treatment/1398 • DATE UPDATED: 2019-05-28

References

American College of Medical Genetics. (2012). Newborn Screening ACT Sheet [Elevated C14:1 +/- other long-chain Acylcarnitines] Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency . Retrieved from https://www.acmg.net/staticcontent/act/c14.pdf

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/

Baby's First Test. "Very Long-Chain Acyl-CoA Dehydrogenase Deficiency." Retrieved 1 June 2016. Available from http://www.babysfirsttest.org/newborn-screening/conditions/very-long-chain-acyl-coa-dehydrogenase-deficiency

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