Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China

Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China

Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase. Beginning in 2014, we carried out newborn screening by tandem mass spectrometry (MS/MS) followed by next-generation sequencing (NGS) and identified two infants with BKT...

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Bibliographic Details
Main Authors: Yuqi Yang, Shu hong Jiang, Shuang Liu, Xiao ya Han, Ying Wang, Lei lei Wang, Bin Yu
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Genetics
Subjects:
newborn screening
inborn errors of metabolism
tandem mass spectrometry
beta-ketothiolase deficiency
next-generation sequencing
ACAT1
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00451/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00451/full

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