Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive disorder of β-oxidation caused by pathogenic variants in the <i>ACADS</i> gene. Analyte testing for SCADD in blood and urine, including newborn screening (NBS) using tandem mass spectrometry (MS/MS) on dr...

Full description

Bibliographic Details
Main Authors: Aashish N. Adhikari, Robert J. Currier, Hao Tang, Coleman T. Turgeon, Robert L. Nussbaum, Rajgopal Srinivasan, Uma Sunderam, Pui-Yan Kwok, Steven E. Brenner, Dimitar Gavrilov, Jennifer M. Puck, Renata Gallagher
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
short-chain acyl-CoA dehydrogenase deficiency
SCADD
<i>ACADS</i>
second-tier testing
ethylmalonic acid
Online Access:https://www.mdpi.com/2409-515X/6/2/41

Internet

https://www.mdpi.com/2409-515X/6/2/41

Similar Items