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Article

Treatment of genetic defects of thiamine transport and metabolism.

Expert review of neurotherapeutics - 1 Jul 2016

Ortigoza-Escobar Juan Darío, Molero-Luis Marta, Arias Angela, Martí-Sánchez Laura, Rodriguez-Pombo Pilar, Artuch Rafael, Pérez-Dueñas Belén

Abstract excerpt

INTRODUCTION: Thiamine is a key cofactor for energy metabolism in brain tissue. There are four major genetic defects (SLC19A2, SLC19A3, SLC25A19 and TPK1) involved in the metabolism and transport of thiamine through cellular and mitochondrial membranes. Neurological involvement predominates in three of them (SLC19A3, SCL25A19 and TPK1), whereas patients with SLC19A2 mutations mainly present extra-neurological...

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Identifiers

PMID: 27191787
DOI: 10.1080/14737175.2016.1187562

Genes

TPK1

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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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