National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

VLCAD deficiency

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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?

The following information may help to address your question:


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?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 12/6/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. 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/.
  2. 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/.