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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors
Author(s) -
OrtigozaEscobar Juan Darío,
Alfadhel Majid,
MoleroLuis Marta,
Darin Niklas,
Spiegel Ronen,
de Coo Irenaeus F.,
Gerards Mike,
Taylor Robert W.,
Artuch Rafael,
Nashabat Marwan,
RodríguezPombo Pilar,
Tabarki Brahim,
PérezDueñas Belén
Publication year - 2017
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24998
Subject(s) - thiamine , etiology , thiamine deficiency , encephalopathy , wernicke encephalopathy , medicine , wernicke's encephalopathy , pediatrics , excretion
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