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J Inherit Metab Dis ; 35(3): 413-7, 2012 May.
Article in English | MEDLINE | ID: mdl-22350544

ABSTRACT

We describe a new neuroradiologic picture observed during metabolic decompensation in two maple syrup urine disease (MSUD) patients that resembles Wernicke encephalopathy (WE). Clinical observations and the review of the literature regarding WE and MSUD pathophysiology prompted us to hypothesize a pathogenic link between these two disorders. Based on these findings, clinicians and neuroradiologists should be aware of MSUD as a possible predisposing factor of WE in children.


Subject(s)
Maple Syrup Urine Disease/diagnosis , Maple Syrup Urine Disease/genetics , Wernicke Encephalopathy/metabolism , Brain/pathology , Child , Citric Acid Cycle , Female , Genetic Predisposition to Disease , Humans , Italy , Magnetic Resonance Imaging/methods , Male , Maple Syrup Urine Disease/complications , Mitochondria/metabolism , Models, Biological , Sequence Analysis, DNA , Time Factors , Wernicke Encephalopathy/complications
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