Pyruvate dehydrogenase E3 binding protein deficiency

被引：21

作者：

Brown, RM ^{[1
]}

Head, RA ^{[1
]}

Brown, GK ^{[1
]}

机构：

[1] Univ Oxford, Dept Biochem, Genet Unit, Oxford OX1 3QU, England

来源：

HUMAN GENETICS | 2002年 / 110卷 / 02期

关键词：

D O I：

10.1007/s00439-001-0665-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：187 / 191

页数：5

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