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What is Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency, or VLCADD, is a genetic disease in which the body is not able to properly break down fat to create energy. The body usually gets its energy by breaking down ("burning") sugars and fats. People with VLCADD are able to break down sugar normally but, because of a problem in the gene called ACADVL, they are not able to break down a type of fat called "very long chain fatty acids."
When a person with VLCADD is healthy and eating regularly, they are able to get enough energy from the sugars in their diet and they appear totally healthy. However, when a person with VLCADD goes a long time without eating and their body tries to burn fat for energy, they can become sick. Common reasons for going without food include illness or when babies begin to sleep through the night.
There are different forms of VLCADD. Symptoms that may occur when a person with a more severe form of VLCADD goes a long time without eating can include low blood sugar (hypoglycemia), enlarged liver, and heart disease. If not treated, it can lead to coma and death. Early diagnosis through newborn screening can help parents learn the best way to feed their child and to get treatment when the child becomes sick.
A milder form of VLCADD occurs in older children and adults and may cause muscle pain, muscle cramps, and difficulties when exercising.
The best person to figure out whether an individual has VLCADD is a doctor who specializes in metabolic disorders, such as a metabolic geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.
Genetic and Rare Diseases Information Center. (2015, June 29). VLCAD Deficiency. https://rarediseases.info.nih.gov/gard/5508/vlcad-deficiency/resources/1
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/