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Article

[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene].

Revista de neurologia - 1 Jan 2000

Blanco-Barca O, Gomez-Lado C, Rodrigo-Saez E, Curros-Novos C, Briones-Godino P, Eiris-Punal J, Castro-Gago M

Abstract excerpt

INTRODUCTION: Pyruvate dehydrogenase (PDH) deficiency constitutes the most frequent metabolic origin of congenital lactic acidosis and is also responsible for a less usual form, found exclusively in females, which leads to a dysmorphic syndrome accompanied by severe cerebral malformations. The most common defect affects fraction E1alpha (gene Xp22.1-22.2). AIM: To report the case of a young female with PDH...

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PMID: 16981164

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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