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.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/acyl-coa-dehydrogenase-very-long-chain-deficiency-of/diagnosis-testing/1393 • DATE UPDATED: 2019-05-28
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; 1993-2016http://www.ncbi.nlm.nih.gov/books/NBK6816/
Genetic and Rare Disease Information Center (GARD). "VLCAD deficiency." Retrieved 1 June 2016. Available from: https://rarediseases.info.nih.gov/gard/5508/vlcad-deficiency/resources/1