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Case report
A Rare Case of β-Ketothiolase Deficiency
1Resident, Dept. of Pediatrics, B.J. Medical College, Ahmedabad.
2Professor and Head of Unit, Dept. of Pediatrics, B.J. Medical College, Ahmedabad.
3Assistant professor, Dept. of Pediatrics, B.J. Medical College, Ahmedabad.
Copyright: © BJKines-NJBAS
Abstract
We are reporting a case of β-ketothiolase deficiency, a rare disorder of amino acid metabolism. A 10 month old child presented with complaints of vomiting, convulsions, fever and altered sensorium that on investigations showed metabolic acidosis, hyperammonemia and ketosis. Gas chromatography/ mass spectroscopic examination was suggestive of β-ketothiolase deficiency.
