We encountered a patient with mitochondrial trifunctional protein deficiency in whom the corresponding mutations were not identified by a DNA panel for newborn screening for targeted diseases. After diagnosis confirmation by an enzyme assay and immunoblotting using the autopsied liver, the re-evaluation of the panel data indicated a heterozygous deletion of exons 6–9 that was later confirmed at the genomic level. cDNA analysis also identified exonization of the 5′ region of intron 9 caused by a deep intronic mutation, c.811 + 82A>G.

中文翻译：

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线粒体三功能蛋白缺乏症患者的新型HADHB突变

我们遇到了一名患有线粒体三功能蛋白缺乏症的患者，在该患者中，DNA面板没有针对新生儿进行针对性疾病筛查的相应突变。通过酶分析确诊并使用尸体解剖的肝进行免疫印迹后，对专家组数据的重新评估表明外显子6-9杂合缺失，随后在基因组水平被证实。cDNA分析还确定了由内含子深度突变c.811 + 82A> G引起的内含子9 5'区域的外显子化。