A rare cause of coma in pediatric patients: beta ketothiolase 2 methylacetoacetyl Co A thiolase deficiency Case Report

Abstract

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 Turk Arch Ped 2007; 42: 77 9 Key words: Beta ketothiolase deficiency ketoacidosis coma

Keywords

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Çocuklarda komanın nadir bir nedeni: beta ketotiyolaz 2 metilasetoasetil koenzim A tiyolaz eksikliği Olgu Sunumu

Öz

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 Türk Ped Arş 2007; 42: 77 9 Anahtar kelimeler: Beta ketotiyolaz eksikliği ketoasidoz koma

Anahtar Kelimeler

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Kaynakça

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12. Beta-ketotiyolaz eksikliği