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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.
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
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.
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