Kürşad AYDIN, Ekrem ÜNAL, Meltem ENERGİN, Atılgan Eylem GÜZEŞ, Ülkühan KAYA

Çocuklarda komanın nadir bir nedeni: Beta-ketotiyolaz (2-metilasetoasetil-koenzim A tiyolaz) eksikliği

Beta-ketotiyolaz L-izolösin katabolizması ve keton cisimlerinin metabolizmasında yer alan bir enzimdir. 13 aylık kız hasta huzursuzluk, hızlı nefes alma şikayetlerinden 12 saat sonra hızla gelişen derin koma nedeniyle başvurdu. Ağır ketoasidoz ve hafif hiperamonyemi tespit edilen hastaya beta-ketotiyolaz eksikliği tanısı konuldu. Akut atak tedavisi yapılan olgu nadir görülmesi nedeniyle sunulmuştur.

A rare cause of coma in pediatric patients: Beta-ketothiolase (2-methylacetoacetyl-Co A thiolase) deficiency

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.

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