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

Lookup NU author(s): Professor Robert Taylor, Professor Bobby McFarlandORCiD



This is the authors' accepted manuscript of an article that has been published in its final definitive form by John Wiley and Sons Inc., 2017.

For re-use rights please refer to the publisher's terms and conditions.


© 2017 American Neurological Association 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 fatal or lead to severe sequelae. Herein, we describe the clinical and genetic characterization of 79 patients with inherited thiamine defects causing encephalopathy in childhood, identifying outcome predictors in patients with pathogenic SLC19A3 variants, the most common genetic etiology. We propose diagnostic criteria that will aid clinicians to establish a faster and accurate diagnosis so that early vitamin supplementation is considered. Ann Neurol 2017;82:317–330.

Publication metadata

Author(s): Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch R, Nashabat M, Rodriguez-Pombo P, Tabarki B, Pérez-Dueñas B, Distelmaier F, Hahn A, Morava E, Banka S, Debs R, Fraser JL, Isohanni P, Lahdesmaki T, Livingston J, Nadjar Y, Schuler E, Uusimaa J, Vanderver A, Friedman JR, Zimbric MR, McFarland R, Santra S, Wassmer E, Marti-Sanchez L, Darling A

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2017

Volume: 82

Issue: 3

Pages: 317-330

Print publication date: 01/09/2017

Online publication date: 30/08/2017

Acceptance date: 12/07/2017

Date deposited: 03/11/2017

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: John Wiley and Sons Inc.


DOI: 10.1002/ana.24998


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Funder referenceFunder name
Wellcom e Centre for Mitochondrial Research (203105/Z/16/Z)