期刊
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
卷 6, 期 2, 页码 -出版社
MDPI
DOI: 10.3390/ijns6020041
关键词
newborn screening; short-chain acyl-CoA dehydrogenase deficiency; SCADD; ACADS; second-tier testing; ethylmalonic acid; exome sequence; butyrylcarnitine
资金
- National Institute of Health as part of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Project [U19HD077627]
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive disorder of beta-oxidation caused by pathogenic variants in theACADSgene. Analyte testing for SCADD in blood and urine, including newborn screening (NBS) using tandem mass spectrometry (MS/MS) on dried blood spots (DBSs), is complicated by the presence of two relatively commonACADSvariants (c.625G>A and c.511C>T). Individuals homozygous for these variants or compound heterozygous do not have clinical disease but do have reduced short-chain acyl-CoA dehydrogenase (SCAD) activity, resulting in elevated blood and urine metabolites. As part of a larger study of the potential role of exome sequencing in NBS in California, we reviewedACADSsequence and MS/MS data from DBSs from a cohort of 74 patients identified to have SCADD. Of this cohort, approximately 60% had one or more of the common variants and did not have the two rare variants, and thus would need no further testing. Retrospective analysis of ethylmalonic acid, glutaric acid, 2-hydroxyglutaric acid, 3-hydroxyglutaric acid, and methylsuccinic acid demonstrated that second-tier testing applied before the release of the newborn screening result could reduce referrals by over 50% and improve the positive predictive value for SCADD to above 75%.
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