2024年12月24日 · ACADVL (Acyl-CoA Dehydrogenase Very Long Chain) is a Protein Coding gene. Diseases associated with ACADVL include Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of and Tango2-Related Metabolic Encephalopathy And Arrythmias. Among its related pathways are Unfolded Protein Response (UPR) and Fatty acid metabolism.

2009年5月28日 · Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons.

The ACADVL gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase (VLCAD). This enzyme functions within mitochondria, the energy-producing centers in cells.

Variants (also called mutations) in the ACADVL gene cause VLCAD deficiency. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids.

2025年2月9日 · Case Report: missense mutation within the ACADVL gene responsible for very-long-chain acyl-CoA dehydrogenase deficiency and sudden infant death. These results emphasize the importance of functional investigation of abnormal NBS or clinical testing suggestive but not diagnostic of very-long-chain acyl-CoA dehydrogenase .

Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness.

2016年12月8日 · The ACADVL gene encodes very long-chain acyl-CoA dehydrogenase (VLCAD) (EC 1.3.99.13). VLCAD is unique among the acyl-CoA dehydrogenases in its size, structure, and intramitochondrial distribution (Aoyama et al., 1995).

2025年1月4日 · Clinical resource with information about ACADVL, Very long chain acyl-CoA dehydrogenase deficiency, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

According to SVI Guidance, ACADVL fulfills the three criteria to be eligible to apply PVS1: It has a definitive association with VLCADD, >3 loss of function (LoF) variants are classified as pathogenic without the use of PVS1, and LoF variants make up >10% of the known variation in this gene.

To address this problem, we have evaluated the various functions and biochemical consequences of six novel missense variants that lead to mild VLCAD deficiency.