TPK deficiency is a rare, but potentially treatable disorder of the thiamine metabolism. Our case outlines the importance of considering the group of thiamine responsive disorders and conducting appropriate genetic tests when patients present with acute-onset encephalopathy, ataxia and other signs suggesting a mitochondrial disorder. High dose thiamine supplementation may ameliorate the course of TPK deficiency and should be initiated promptly after diagnosis or even upon suspicion.


CategoryPoster-Vorträge
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