[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].

Moling Wu, Li Liu,Yanna Cai, Huiying Sheng,Jing Cheng, Xiuzhen Li,Xi Yin, Zhikun Lu,Ruizhu Lin, Zhizi Zhou, Liping Fan, Hongsheng Liu

Zhonghua er ke za zhi = Chinese journal of pediatrics（2014）

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摘要

The severity and the clinical phenotypes of pyruvate dehydrogenase complex deficiency varied. Sequence analysis of PDHA1 gene revealed a 788G>A (R263Q) mutation. Patients who presented with unexplained muscle hypotonia, weakness and hyperlactacidemia could be diveded by gene analysis. And appropriate treatment can improve the quality of life.

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