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Article

Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies.

Pediatric neurology - 1 Aug 2005

Toyoshima Mitsuo, Oka Akira, Egi Yoshiko, Yamamoto Toshiyuki, Onozuka Mari, Nosaka Kazuto, Naito Etsuo, Yamada Kazuo

Abstract excerpt

We studied six infants with thiamine-responsive congenital lactic acidosis and normal pyruvate dehydrogenase complex activity in vitro, through clinical and biochemical analysis. In addition to elevated lactate and pyruvate levels, the data revealed increased urinary excretion of alpha-ketoglutarate, alpha-ketoadipate, and branched chain ketoacids, indicating functional impairment of thiamine-requiring enzymes,...

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Identifiers

PMID: 16087053
DOI: 10.1016/j.pediatrneurol.2005.02.007

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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