Pyruvate dehydrogenase E3 binding protein deficiency
Pyruvate dehydrogenase E3 binding protein deficiency
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DOI：
10.1007/s00439-001-0665-3
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发表时间：
2002-02-01
期刊：
影响因子：
5.3
通讯作者：
Brown, GK
中科院分区：
文献类型：
--
作者：
Brown, RM;Head, RA;Brown, GK
丙酮酸脱氢酶复合物的E3结合蛋白组分的主要缺陷似乎是丙酮酸脱氢酶缺乏症的罕见原因。我们描述了两个新的，不相关的患者与突变的E3结合蛋白基因，在这两种情况下，涉及保守的二核苷酸的剪接点。这两名患者都表现出发育延迟和乳酸酸中毒，这些特征也见于更常见的丙酮酸脱氢酶E1 α亚基缺乏症患者;然而，他们在培养的成纤维细胞中均具有显著的残留酶活性并延长了生存期。
Primary defects of the E3 binding protein component of the pyruvate dehydrogenase complex appear to be a rare cause of pyruvate dehydrogenase deficiency. We describe two new, unrelated patients with mutations in the E3 binding protein gene, in both cases involving the conserved dinucleotides of splice junctions. Both patients presented with delayed development and lactic acidosis, features that are also found in patients with the more common pyruvate dehydrogenase E1alpha subunit deficiency; however, they both had significant residual enzyme activity in cultured fibroblasts and prolonged survival.