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Article

Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China.

Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2022

Tian Yuan, Zhu Xinyun, Lv Shubo, Jia Chenlu, Zhang Linlin, Ni Min, Xu Yizhuo, Peng Rui, Liu Suna, Zhao Dehua

Abstract excerpt

BACKGROUND: Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation and one of the most common inborn errors of metabolism. The incidence of MCADD varies among regions and ethnic groups. To date, few cases of MCADD have been documented in China. OBJECTIVE: The present study aimed to find out the novel genetic pathogenic variants in the Chinese...

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PMID: 36096209
DOI: 10.1016/j.cca.2022.09.008

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