Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

 

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inborn error of metabolism, an inherited condition in which an enzyme, very long-chain acyl-CoA dehydrogenase, in the body is either missing or not working well. The job of this enzyme is to help break down certain fats to use for energy. VLCAD deficiency is considered a fatty acid oxidation condition because people with VLCAD deficiency are unable to change some fats into the energy the body needs to function and too many unused fatty acids build up in the body. Symptoms can vary and can include poor feeding, vomiting, low blood sugar (hypoglycemia), extreme tiredness/lethargy, breathing problems, reddish-brown colored urine, muscle problems that can lead to kidney problems, liver problems, heart problems and/or other potential signs and symptoms. VLCAD deficiency can be a life-threatening condition. Illness or infections, physical over-exertion, and going too long without food for any reason are some examples of circumstances that could also trigger symptoms of VLCAD deficiency. Management includes avoiding prolonged fasting, and often includes a special diet and/or medication/supplements, other special precautions and emergency recommendations. Support groups are available to help connect families living with VLCAD deficiency with others who have experience or expertise with this condition. Early detection and intervention can benefit children with this condition.

To learn more information about very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, visit Screening, Technology, and Research in Genetics (STAR-G): Very-long-chain acyl-CoA dehydrogenase deficiency and Baby's First Test: Very-long-chain acyl-CoA dehydrogenase deficiency. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.