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[Multiple acyl-coA dehydrogenase deficiency caused by new variant of ETFDH gene in 2 children].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2022

Li Y, Xu X N, Ma H W, Li Y X, Cheng L, Liu H, Zhang N

Abstract excerpt

例1，男，10岁，以“间断恶心、呕吐3个月，加重 3 d”起病。临床表现为间断恶心、呕吐伴乏力、腹痛、头晕、肝功能异常、脑电图异常。例2，女，4岁，为例1胞妹，无临床表型。2例患儿基因检测均为ETFDH基因错义变异，核苷酸变化为c.1369 T>C、c.1851 G>A，氨基酸改变p.S457P、p.M617I，诊断为多种酰基辅酶A脱氢酶缺乏症。.

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Identifiers

PMID: 35090233
DOI: 10.3760/cma.j.cn112140-20210707-00561

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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