Department of Medical Genetics, McGill University, Montreal, Canada.
Mol Genet Metab. 2012 Aug;106(4):491-4. doi: 10.1016/j.ymgme.2012.05.001. Epub 2012 May 17.
We describe the pregnancy of a patient of French-Canadian descent with multiple Acyl-CoA dehydrogenation deficiency (MADD). The proband was found to harbor a previously reported homozygous missense mutation on EFTDH gene (p.Pro534Leu:c.1601C>T) confirming the biochemical diagnosis of MADD. This mutation was not found in 50 controls from the same ethnic background. The clinical and molecular information of all patients with ETFDH mutations reported in the literature up-to-date are summarized.
我们描述了一例法裔加拿大血统的多酰基辅酶 A 脱氢酶缺乏症（MADD）患者的妊娠情况。该先证者携带先前报道的 EFTDH 基因纯合错义突变（p.Pro534Leu：c.1601C>T），证实了 MADD 的生化诊断。在来自同一种族背景的 50 名对照中未发现该突变。总结了迄今为止文献中报道的所有具有 ETFDH 突变的患者的临床和分子信息。
