Acyl-coa dehydrogenase, very long-chain, deficiency of
What gene change causes Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) is caused by changes (mutations) in the gene called ACADVL which provides instructions for making the enzyme or protein called "very long-chain acyl-coenzyme A dehydrogenase" or VLCAD which breaks down fat for energy.
Different mutations in the gene create different problems in the enzyme. Some mutations prevent the enzyme from breaking down very long chain fatty acids at all. Other mutations allow the enzyme to break down some fat, but the work is done much more slowly. The different forms of VLCADD have to do with how well the enzyme works. In the most severe forms, the enzyme does not work at all or works only very little. In the more mild forms, the enzyme is still able to work, but not as efficiently as possible.
In order to learn more about the specific genes involved in VLCAD deficiency, people can speak with a metabolic physician or a genetic counselor. Genetic counselors can be found on the National Society of Genetic Counselors website.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/acyl-coa-dehydrogenase-very-long-chain-deficiency-of/causes/1387 • 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; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK6816/
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