Acyl-coa dehydrogenase, very long-chain, deficiency of
Are there different forms of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) is separated into three different groups depending on severity. They are all caused by mutations (changes) in the same gene (ACADVL).
- Severe early-onset cardiac and multi-organ failure VLCADD. This is the most severe form in which the body is not able to break down any very long chain fatty acids. A baby with this form of VLCADD usually has symptoms before it is a few months old.
- Hepatic or hypoketotic hypoglycemic VLCADD. This is an intermediate form of VLCADD in which the body is able to break down some very long chain fatty acids. Symptoms usually occur in infancy or early childhood.
- Later-onset episodic myopathic VLCADD. This is the mildest and most common type of VLCADD. Symptoms may not appear until adulthood and some people with this form of the condition may never have symptoms.
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/symptoms/3846 • 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/
Genetic and Rare Diseases Information Center. (2015, June 29). VLCAD Deficiency. https://rarediseases.info.nih.gov/gard/5508/vlcad-deficiency/resources/1