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

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....