Acyl-coa dehydrogenase, very long-chain, deficiency of
Overview
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.
References
- 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/
More Overview Content
Are there other names for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?
How common is Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?
Are there other names for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?
Other names for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency include
- VLCADD, (pronounced "VL-cad")
- VLCAD Deficiency, (pronounced "VL-cad")
- Very Long Chain Acyl CoA Dehydrogenase Deficiency.
- ACADVL
- Acyl-CoA dehydrogenase very long chain deficiency
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) belongs to a category of diseases called "Fatty Acid Oxidation Disorders". In this group of disorders, the body is not able to properly break down fats for energy.
You will often find the disorder abbreviated VLCADD, but there could be other things with the same abbreviation. Always look for a sentence that says they are shortening Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency to "VLCADD" in an article, webpage or other document. You can also ask your doctor to define abbreviations that are not clear.
References
- Genetics Home Reference. (2009). Very long-chain acyl-CoA dehydrongenase deficiency. Retrieved 2016, from Genetics Home Reference, National Library of Medicine, National Institute of Health: http://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency/show/print
- 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/
How common is Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?
The exact incidence of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) is not known. It is estimated to affect 1 in 40,000 to 120,000 people.
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.
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. Available from: http://www.ncbi.nlm.nih.gov/books/NBK6816/
- Genetic Metabolic Dieticians International. 2008 Sept 4. Frances Rohr and Sandy van Calcar, editors. Available from: http://www.gmdi.org/Resources/Nutrition-Guidelines/VLCAD
