Reviewed February 2007
What is very long-chain acyl-coenzyme A dehydrogenase deficiency?
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with very long-chain acyl-coenzyme A dehydrogenase deficiency have inadequate levels of an enzyme that metabolizes a group of fats called very long-chain fatty acids.
Typically, initial signs and symptoms of this disorder occur during infancy or childhood and include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. People with an early onset of very long-chain acyl-coenzyme A dehydrogenase deficiency are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. Symptoms that begin in adolescence or adulthood tend to be milder and usually do not involve heart problems. Episodes of very long-chain acyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting, illness, and exercise.
How common is very long-chain acyl-coenzyme A dehydrogenase deficiency?
Very long-chain acyl-coenzyme A dehydrogenase deficiency is estimated to affect 1 in 40,000 to 120,000 people.
What genes are related to very long-chain acyl-coenzyme A dehydrogenase deficiency?
Mutations in the ACADVL gene cause very long-chain acyl-coenzyme A dehydrogenase deficiency.
Mutations in the ACADVL gene lead to inadequate levels of an enzyme called very long-chain acyl-coenzyme A dehydrogenase. Without sufficient amounts of this enzyme, very long-chain fatty acids from food and fats stored in the body are not metabolized properly. As a result, these fats are not converted to energy, which can lead to characteristic signs and symptoms of this disorder such as lethargy and low blood sugar. Very long-chain fatty acids or partially metabolized fatty acids may accumulate in tissues and can damage the heart, liver, and muscles, causing serious complications.
Read more about the ACADVL gene.
How do people inherit very long-chain acyl-coenzyme A dehydrogenase deficiency?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about treatment for very long-chain acyl-coenzyme A dehydrogenase deficiency?
These resources address the management of very long-chain acyl-coenzyme A dehydrogenase deficiency and may include treatment providers.
You might also find information on treatment of very long-chain acyl-coenzyme A dehydrogenase deficiency in
Educational resources and Patient support.
Where can I find additional information about very long-chain acyl-coenzyme A dehydrogenase deficiency?
You may find the following resources about very long-chain acyl-coenzyme A dehydrogenase deficiency helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
- Gene Tests - DNA tests ordered by healthcare professionals
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- PubMed - Recent literature
- OMIM - Genetic disorder catalog
What other names do people use for very long-chain acyl-coenzyme A dehydrogenase deficiency?
- ACADVL
- acyl-CoA dehydrogenase very long chain deficiency
- very long-chain acyl coenzyme A dehydrogenase deficiency
- VLCAD-C
- VLCAD deficiency
- VLCAD-H
What if I still have specific questions about very long-chain acyl-coenzyme A dehydrogenase deficiency?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding very long-chain acyl-coenzyme A dehydrogenase deficiency?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.