[Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening].

HanYi Zhao,Duo Zhou,Haixia Miao,Chi Chen, Jianbin Yang,Rulai Yang,Xinwen Huang

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2023）

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摘要

SBCAD deficiency is a rare disease. The detection rate of newborn screening in this study was 1/227 571. Early intervention can be attained in most asymptomatic patients through neonatal screening. In this study, the common gene variants are c.1165A>G and c.275C>G.

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neonatal screening,genetic variants,deficiency,branched-chain,acyl-coa

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