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Ann Neurol. 2017 Sep;82(3):317-330. doi: 10.1002/ana.24998. Epub 2017 Aug 30.

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

Author information

1
Division of Child Neurology, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain.
2
Institut de Recerca Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
3
Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
4
Division of Biochemistry, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain.
5
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
6
Rappaport School of Medicine, Technion, Haifa, Israel; Department of Pediatrics B, Emek Medical Center, Afula, Israel.
7
Department of Neurology, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.
8
MaCSBio (Maastricht Centre for Systems Biology), Maastricht University Medical Centre, Maastricht, The Netherlands.
9
Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.
10
CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.
11
Departamento de Biología Molecular, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Centro de Biología Molecular Severo Ochoa CSIC-UAM, IDIPAZ, Universidad Autónoma de Madrid, Madrid, Spain.
12
Divisions of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

Abstract

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.

PMID:
28856750
DOI:
10.1002/ana.24998
[Indexed for MEDLINE]

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