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]

Ünal E.Güzeş E.A.Aydin K.Kaya Ü.Energin M.2020-03-262020-03-2620071306-0015https://hdl.handle.net/20.500.12395/21745Beta-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.trinfo:eu-repo/semantics/closedAccessBeta-ketothiolase deficiencyComaKetoacidosisA 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]Article4227779N/A