Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

ObjectiveMedium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation. The present study aimed to evaluate clinical and biochemical manifestations, and the mutation spectrum of this disorder in a large cohort of Chinese patients.MethodsA tot...

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Bibliographic Details
Main Authors: Zhuwen Gong, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Yu Wang, Wenjun Ji, Ting Chen, Xuefan Gu, Lianshu Han
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Genetics
Subjects:
ACADM gene
medium-chain acyl-CoA dehydrogenase deficiency
newborn screening
octanoylcarnitine
tandem mass spectrometry
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.577046/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.577046/full

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