AcylCoA dehydrogenase very long chain, deficiency ... (Very long-chain acyl-CoA dehydrogenase deficiency -VLCAD-) - Gen ACADVL.
Deficiency acyl-CoA dehydrogenase, very long chain (VLCAD) is an alteration that prevents the body to convert certain fats in energy, especially fasting. Signs and symptoms usually appear during infancy or early childhood and may include hypoglycemia, lethargy and muscle weakness. Affected individuals are also at risk of serious life - threatening complications such as liver abnormalities and heart problems. When symptoms begin in adolescence or adulthood, they tend to be milder and usually do not involve the heart. Problems related to the disease can be triggered by periods of fasting, sickness and exercise. Sometimes, deficiency of acyl-CoA dehydrogenase very long chain is confused with Reye syndrome.
This process is due to mutations in the gene ACADVL, located on the short arm of chromosome 17 (17p13.1). This gene encodes the enzyme acyl-CoA dehydrogenase, very long chain, which is required to metabolize fatty acids very long chain. These fatty acids are found in foods and in fatty tissues. Fatty acids are an important source of energy for the heart and muscles. During periods of fasting, the fatty acids are also an important source of energy for the liver and other tissues.
They have identified more than 100 mutations in the gene responsible for deficiency ACADVL acyl-CoA dehydrogenase very long chain. Many of these mutations change the amino acids in VLCAD enzyme. Other mutations eliminate part of ACADVL gene or create an early signal stop encoding acyl-CoA dehydrogenase, very long chain. These mutations change the structure of the enzyme, reducing or eliminating its activity, resulting in a deficiency of the enzyme within cells. Without sufficient concentrations of this enzyme, fatty acids, very long chain not metabolize properly. As a result, these fats are converted into energy, which can lead to signs and symptoms of this disorder such as lethargy and hypoglycemia. Fatty acids or very long chain fatty acids partially metabolised may also accumulate in tissues and damage the heart, the liver and muscles.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with deficiency of acyl-CoA dehydrogenase, very long chain, by complete PCR amplification of exons ACADVL gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).