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Öğe A rare cause of coma in pediatric patients: Beta-ketothiolase (2-methylacetoacetyl-Co A thiolase) deficiency [Çocuklarda komanin nadir bir nedeni: Beta-ketotiyolaz (2-metilasetoasetil-koenzim A tiyolaz) eksikli?i](Kare Publishing, 2007) Ünal E.; Güzeş E.A.; Aydin K.; Kaya Ü.; Energin M.Beta-ketothiolase deficiency is a rare inborn error of L-isoleucine catabolism and ketone body metabolism. We present a 13-month-old, girl with beta-ketothiolase deficiency who was admitted with rapidly progressive coma. Severe ketoacidosis and mild hyperammonemia was documented. This rare case was treated successfully during the acute episode.
