Analysis of genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine.

ABSTRACT:

Objectives

To investigate the genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine (C4).

Methods

One hundred and twenty neonates with increased C4 levels detected by tandem mass spectrometry in the neonatal screening at Children's Hospital, Zhejiang University School of Medicine from January 2018 to June 2023 were included. The initial screening data and recalled data of C4 and C4/C3 were collected and converted into multiples of C4 reference range. Next generation sequencing was performed and the exons with adjacent 50 bp regions of ACAD8 and ACADS genes were captured by liquid phase capture technique. Variant information was obtained by bioinformatic analysis and the pathogenicity were classified according to the Ameri

SUBMITTER: Wu D 

PROVIDER: S-EPMC10764187 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature