Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12492
Abstract: Very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disease resulting from mutations in the ACADVL gene and is among the disorders tested for in newborn screening (NBS). Confirmatory sequencing following suspected VLCADD NBS… read more here.
Keywords: acadvl; vlcad; enzyme activity; activity ... See more keywords
Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Community Genetics"
DOI: 10.1007/s12687-019-00409-8
Abstract: The Iowa Newborn Screening (NBS) Program began screening for very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) in 2003. Untreated VLCAD can lead to liver failure, heart failure, and death. Current confirmatory testing recommendations by the American… read more here.
Keywords: vlcad; misclassification vlcad; confirmatory testing; vlcad carriers ... See more keywords