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Article

[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jun 2007

Zhang Yao, Sun Fang, Yang Yan-Ling, Chang Xing-Zhi, Qi Yu, Qi Zhao-Yue, Xiao Jiang-Xi, Qin Jiong, Wu Xi-Ru

Abstract excerpt

Leigh syndrome is a genetically heterogeneous disease caused by defects in enzymes involved in aerobic energy metabolism and the Krebs' cycle. Deficiency of pyruvate dehydrogenase complex E1 alpha subunit (PDHA1) is the common cause of Leigh syndrome. In this study, one Chinese case of PDHA1 deficiency was reported. The patient was a boy with normal mental development, retarded motor development, general...

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Identifiers

PMID: 17582259

Genes

PDHA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapesSemantic proximity Read ↗

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