Beta Ketothiolase Deficiency Manifested With Coma and Vocal Cord Dystonia: A Rare Case Report
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Case Report

Beta Ketothiolase Deficiency Manifested With Coma and Vocal Cord Dystonia: A Rare Case Report

J Pediatr Emerg Intensive Care Med 2014;1(2):105-108 DOI: 10.5505/cayb.2014.73792
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Abstract

Beta ketothiolase deficiency is an organic asidemia of isoleucine catabolism and ketone body metabolism which caused by acetoacetyl-CoA thiolase enzim deficiency. We diagnosed a ketothiolase deficiency in 7 months old boy who was admitted with high anion gap metabolic acidosis and coma. Vocal cord distonia was occured in the course of treatment which was belived to be caused by basal ganglia involvement of disease. The case is reported because there is no case reports about beta ketothiolase deficiency with vocal cord distonia in the literature.

Keywords: Beta ketothiolase deficiency, vocal cord distonia, metabolic acidosis