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Diseases

Genetic and Rare Diseases Information Center (GARD)

VLCAD deficiency


Other Names for this Disease
  • Very long-chain acyl-CoA dehydrogenase deficiency
  • VLCADD
  • Very long chain acyl-CoA dehydrogenase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

What is the life expectancy of a child with VLCAD deficiency? Who are the best doctors in the United States for this condition? I was told that my child has one mutated gene and one with significant variables. Does that mean she has the condition?


Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is the life expectancy of a person with VLCAD deficiency?

The lifespan of people with VLCAD deficiency varies. The severe form of this condition which begins during infancy can cause life-threatening cardiomyopathy or heart rhythm disorders. However, early diagnosis and proper treatment play an important role in preventing these serious health complications. Those who are diagnosed during childhood may develop episodes called metabolic crises that can lead to coma or death if not treated. Adults diagnosed with VLCAD deficiency have milder symptoms and typically do not develop metabolic crises.[1]
Last updated: 6/29/2015

Who are the best doctors in the United States for VLCAD deficiency?

Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find a Disease Specialist fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
Last updated: 6/29/2015

What does it mean if a child has one mutated ACADVL gene and one with significant variables?

A mutation is any change in a gene from its natural state, which may or may not cause a disease. Sometimes a genetic test will find a change in a gene, but it is not known if that change causes a disease. These are called "variants of unknown significance." People with VLCAD deficiency have disease-causing mutations in both copies of the ACADVL gene. For more information on what the results of your child's genetic test mean, we strongly recommend that you consult with a genetics professional. A genetics professional, like a genetic counselor or a medical geneticist, can interpret your test results and answer your specific questions.
Last updated: 6/29/2015

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
  • Nancy D Leslie, MD, C Alexander Valencia, PhD, Arnold W Strauss, MD, Jessica Connor, MS, and Kejian Zhang, MD, MBA. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews. September 2014; http://www.ncbi.nlm.nih.gov/books/NBK6816/.
  • Leslie, ND, Tinkle BT, Strauss AW, Shooner K, and Zhang K. Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews. 09/22/2011; http://www.ncbi.nlm.nih.gov/books/NBK6816/. Accessed 1/1/1900.
Other Names for this Disease
  • Very long-chain acyl-CoA dehydrogenase deficiency
  • VLCADD
  • Very long chain acyl-CoA dehydrogenase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.