A Rare Case of β-Ketothiolase Deficiency
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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
B.J.Medical College Development Society, Ahmedabad
2015-06-01
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| Series: | BJ Kines: National Journal of Basic & Applied Sciences |
| Subjects: | |
| Online Access: | http://bjkines.com/vol7june15/papercase12fulltext.pdf |