A. Merve USTA, Melih Y. EROL, Müferet ERGÜVEN, Metin YILDIZ, Sema SALTIK, Murat DEVECİ

Beta-keto tiyolaz eksikliği: Vaka sunumu

Mitokondriyal asetoasetil koenzim A tiyolaz, izolösin katabolizmasında ve keton cisimciği metabolizmasında rol alan bir enzimdir. Eksikliği 'Beta-keto tiyolaz eksikliği" diye adlandırılır. Klinik olarak bilinç kaybının eşlik ettiği ketoasidotik epizodlarla karakterizedir. Bu yazıda sunulan 7 yaşındaki erkek hasta, ikinci ketoasidotik atağı sırasında tanı almıştır. Vaka nadir görülmesi ve ketoasidotik atakların ayırıcı tanısında akılda bulundurulması gerektiği için sunulmuştur.

Anahtar Kelimeler:

Asetil-koenzimA C-açiltransferaz, Çocuk, Eksiklik hastalıkları, Tanı, ayırıcı

Beta keto thiolase deficiency: Case report

Mitochondrial acetoacetyl-CoA thiolase, is an enzyme in isoleusin catabolism and ketone body metabolism. The name 'beta keto thiolase deficiency' is usually used for the defect of this enzyme. This disorder is clinically charecterized by ketoasidotic episodes, sometimes accompanied by unconsiousness. In this article, a 7-year old boy, diagnosed in the second ketoasidotic episode, was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoasidotic episodes.

Keywords:

Acetyl-CoA C-Acyltransferase, Child, Deficiency Diseases, Diagnosis, Differential,

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