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Diseases

Genetic and Rare Diseases Information Center (GARD)

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VLCAD deficiency


Other Names for this Disease
  • Very long-chain acyl-CoA dehydrogenase deficiency
  • VLCADD
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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 an individual with VLCAD deficiency varies from person to person. The severe form of this condition that begins during infancy can cause life-threatening cardiomyopathy or heart rhythm disorders. 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 had milder symptoms and typically do not develop metabolic crises.[1]

For more information on individual experiences, contact the FOD (Fatty Oxidation Disorders) Family Support Group.
Last updated: 10/11/2013

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

The Genetic and Rare Diseases Information Center cannot recommend the services of a particular doctor. To find out which doctors have experience diagnosing and treating individuals with VLCAD deficiency, we recommend that you contact the FOD (Fatty Oxidation Disorders) Family Support Group. https://www.fodsupport.org/contact.php
Last updated: 10/11/2013

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." Individuals 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: 10/11/2013

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: 10/18/2013

References