Glutaric aciduria type 2 is a rare, lethal disorder that affects metabolism of fatty acids caused by genetic defects in electron transfer (ETF) or in electron transfer flavoprotein dehydrogenase (ETFDH). We aimed to describe the pathological findings of 15 week old foetus, born from a consanguineous couple with 3 previous perinatal deaths. The last son died at 4 days of life and genetic analyses revealed a novel probably pathogenic variant at ETFDH (c.706dupG + c.706dupG) that codifies for a truncated protein (p.Glu236Glyfs*5 + p.Glu236Glyfs*5).

中文翻译：

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II型戊二酸尿症的产前和胎儿尸检结果。

2 型戊二酸尿症是一种罕见的、致命的疾病，会影响由电子转移 (ETF) 或电子转移黄素蛋白脱氢酶 (ETFDH) 中的遗传缺陷引起的脂肪酸代谢。我们的目的是描述 15 周大胎儿的病理结果，该胎儿来自一对近亲夫妇，之前有 3 次围产期死亡。最后一个儿子在出生 4 天时死亡，遗传分析揭示了ETFDH 的一种新的可能致病性变异（c.706dupG + c.706dupG），该变异编码截断的蛋白质（p.Glu236Glyfs*5 + p.Glu236Glyfs*5）。