Öznur KILIÇ, Serdar CÖMERT, Gülay Çiler ERDAĞ, YASEMİN AKIN, Semiramis SADIKOĞLU, Ayça VİTRİNEL

Beta-ketothiolaz eksikliği: Olgu sunumu

Beta-ketothiolaz (mitokondrial asetoasetil-CoA thiolaz) eksikliği izolösin ve keton metaboliz¬masının bozukluğudur. Mitokondrial asetoasetil-CoA tiolaz, 2 metilasetoasetil-CoA'nm izolösin metabolizmasında bölünmesinden, asetoasetil-CoA'nm ketogenezdeki formasyonundan ve asetoasetil-CoA'nın ketolizdeki bölünmesinden sorumludur. Tedaviye dirençli ketoasidoza yol açan hastalıklar içersinde nadirde olsa B-ketothiolaz eksikliği düşünülmesi gerektiğini vurgulamak için bu olguyu sunmak istedik.

Anahtar Kelimeler:

Eksiklik hastalıkları, Asetil-CoA C-asetiltransferaz

Beta-ketothiolaz eksikliği: Olgu sunumu

Beta-ketothiolase deficiency is defect ofketone body and isoleucine metabolism. Mithocondrial acetoacetyl-CoA thiolase is responsible for the division of 2 methylacetoacetyl-CoA in isolasine methabolism, the formation of acetoacethyl-CoA in kethogenese and the division of acetoacetyl-CoA in ketolysis. This case was prepared to emphasize the importance of considering the Beta-ketotiolase deficiency for the diseases causing ketoacidosis which is resistant to the treatment.

Keywords:

Deficiency Diseases, Acetyl-CoA C-Acetyltransferase,

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