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Article

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

Annals of neurology - 1 Sept 2017

Ortigoza-Escobar Juan Darío, Alfadhel Majid, Molero-Luis Marta, Darin Niklas, Spiegel Ronen, de Coo Irenaeus F, Gerards Mike, Taylor Robert W, Artuch Rafael, Nashabat Marwan, Rodríguez-Pombo Pilar, Tabarki Brahim, Pérez-Dueñas Belén

Abstract excerpt

Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutarate, and branched chain keto-acids. Undiagnosed and untreated thiamine deficiencies are often...

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PMID: 28856750
DOI: 10.1002/ana.24998

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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