Joeie asked 4 years ago

If only 1 parent is a carrier of the VLCADD gene is it still possible for a child to inherit the gene and be affected? 

1 Answers

Best Answer

INFORM Physician answered 4 years ago

Joeie, First some general comments. VLCAD deficiency is inherited in an autosomal recessive condition, so that means that a child needs two copies of the ACADVL gene to not work properly to have disease. Typically, this means that both parents must be carriers of one mutation for a child to get the disease. However, in 5-10% of patients with VLCAD deficiency we are able to only find one such mutation. In that situation, we know that other mutation must be present, but is just not identified by current technology. In those families, only one parent will be identified as a carrier. So for parents who’ve had a child with VLCAD deficiency, the risk to have another child with VLCAD deficiency is 25% (1/4) with each pregnancy whether or not both mutations have been identified. However, if an individual is a known carrier and a partner is unknown, the risk to have a child with VLCAD deficiency is only present in the partner is known. Genetic testing can be done for the partner, but is not 100%. It would be best for anyone worried about future genetic risks should receive a genetic evaluation and genetic counseling. Hope this helps. Dr. Vockley