Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency.

ABSTRACT: Newborn screening is a public health care program worldwide to prevent patients from critical illness or conditions. Tandem mass spectrometry allows multiplex, inexpensive, and rapid newborn screening. However, mass spectrometry used for newborn screening to date is not able to separate peaks of compounds with similar m/z, which could lead to false-positive results without additional second-tier tests, such as fragmentation. We experienced three neonatal cases with high levels of markers, octanoylcarnitine and octanoylcarnitine/decanoylcarnitine ratio used to pick up possible cases of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The babies were born consecutively in a maternity hospital. Their second acylcarnitine profiles were normal, and the genetic tests for ACADM

SUBMITTER: Mikami-Saito Y 

PROVIDER: S-EPMC7653163 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature