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. Metabolic geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/acyl-coa-dehydrogenase-very-long-chain-deficiency-of-3023/overview/1383 • DATE UPDATED: 2016-06-26

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/

Contact a ThinkGenetic Counselor

Do you have additional questions that haven't been answered? Ask a ThinkGenetic Counselor — a real expert in the field of genetics. Just fill out this form to send an email. We will be in touch within 48 hours.

Please sign me up for your mailing list.

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me

Welcome to the ThinkGenetic beta. More content is added weekly so come back and check often. Please provide your feedback by filling out a contact us form.