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Amaç: Beta-ketotiolaz (T2) ve suksinil-KoA:3-ketoasit KoA transferaz (SCOT) keton cisimlerinin yıkımında görev alan iki enzimdir. Ketolizde görevli bu iki enzimin eksikliğinde erken çocuklukta açlık veya diğer katabolik süreçlerle tetiklenen ve tekrarlayan ketoasidoz atakları görülür. Bu çalışmada, ketoliz defekti tanısıyla izlenen hastaların klinik ve moleküler özelliklerinin incelenmesi amaçlandı. Yöntem: Çukurova Üniversitesi Çocuk Metabolizma ve Beslenme Bilim Dalı’nda takipli 15 T2 eksikliği ve bir SCOT eksikliği tanılı hasta çalışmaya dahil edildi. Geriye dönük hastaların tıbbi kayıtları incelendi. Bulgular: Hastaların sekizi kız, sekizi erkekti. 13 hastada anne-baba akrabalığı, 11 hastada aile öyküsü vardı. SCOT eksikliği olan hastanın ilk ketoasidoz atağı iki günlükken olmuştu. T2 eksikliği olan hastalarda ise ilk atak yaşı ortalama 8,0±6,7 aydı (4 gün-29 ay). SCOT eksikliği olan hastanın atakları arasında hem negatif hem pozitif aseton değerleri olması ilginç özelliğiydi. T2 eksikliği tanılı hastaların tümünde atak dışında keton hep negatifti. Atak sırasında 10 hastada hipoglisemi, altısında ise hiperglisemi görüldü. Hastaların izlem süresince ortalama atak sayısı 3,8±3,1 idi. Hastalardan tanı ve ayırıcı tanı için açilkarnitin profili ve organik asit analizi çalışıldı. Mutasyon analizi yapılabilen 11 hastadan 10’unda bulunan mutasyonlar literatürde ilk kez bu çalışmayla tanımlandı. Sonuç: Ketoasidoz tablosunda gelen hastalarda organik asidemi ayırıcı tanısında daha nadir görülseler de ketoliz defektlerinin akılda tutulması gereklidir. Organik asidemilerden farklı olarak hastaların çoğunda kan şekeri ve beslenme durumundan bağımsız süreğen ketozisin olması, tipik organik asit ve açilkarnitin profili en önemli tanısal ipuçlarıdır. Bu gruptaki iki hastalığın tedavileri organik asidemiler kadar ciddi ve süreğen protein kısıtlaması ve kofaktör desteği gerektirmediğinden hem hastaların büyümelerini hem de yaşam kalitelerini daha az etkilemektedir.
Purpose: Beta-ketotiolase (T2) and suksinyl-KoA:3-ketoacide KoA transferase (SCOT) are two enzymes engaged in the destruction of keton bodies. In the absence of these two enzymes responsible for ketolysis, early childhood causes and repeated ketoacidosis attacks, triggered by hunger or other catabolic processes. This study was aimed at examining the clinical and molecular characteristics of patients monitored with the diagnosis of ketolysis defects. Method: 15 T2 deficiency and a SCOT deficiency diagnosed in the study was included in the Child Metabolism and Nutrition Science Department of the University of Çukurova. The medical records of the backward patients were examined. The patients were eight girls and eight men. In 13 patients, parents and relatives, 11 patients had a family history. The patient's first ketoacidosis attack was in two days of SCOT deficiency. In patients with T2 deficiency, the first attack age was an average of 8,0±6,7 months (4 days-29 months). It was interesting that among the attacks of the patient with SCOT deficiency there were both negative and positive acetone values. Ketone was always negative in all patients diagnosed with T2 deficiency except an attack. At the time of the attack, 10 patients had hypoglycemia and six had hypoglycemia. The average number of attacks during the monitoring period of patients was 3.8±3.1. Acercarnitine profile and organic acid analysis were studied for the diagnosis and distinctive diagnosis of patients. The mutations found in 10 of 11 patients with mutation analysis were identified for the first time in literature with this study. The result: in patients in the ketoacidosis table, organic acid distinctive diagnosis is more rare, but ketolysis defects need to be remembered. Unlike organic acids, ketosis, which is independent of blood sugar and nutritional status in most patients, is typical organic acid and acetylcarnitine profile-proofed diagnostic clues. Treatments for the two diseases in this group are as serious as organic acids and do not require prolonged protein restrictions and cofactor support, so they have less impact on both patient growth and quality of life.
Aim: Beta-Ketothiolase(T2) and Succinyl-CoA:3-ketoacid CoA transferase(SCOT) enzymes are crucial in ketone body utilization. Deficiencies of these enzymes present in early childhood with recurrent ketoacidosis, triggered by fasting and catabolic states. In this study, we aim to investigate clinical and molecular findings of patients who have defects of ketolysis. Methods:15 patients with T2 and one patient with SCOT deficiency who are followed up in Çukurova University Department of Pediatric Metabolism and Nutrition were included in the study. Medical records were reviewed retrospectively. Results: Eight patients were female. 13 patients had parental consanguinity; 11 had positive family history. Patient with SCOT deficiency had his first ketoacidosis episode at second day of life. Mean age at first episode for T2-deficient patients was 8,0±6,7 months (4 days-105 months). Interestingly, between episodes, SCOT-deficient patient’s ketone levels were both positive and negative. Ketone levels were zero for T2-deficient patients between episodes. During episodes, 10 patients had hypoglycemia and six patients had hyperglycemia. Mean number of attacks were 3,8±3,1. For differential diagnosis, acylcarnitine profiles and urine organic acid analysis were studied. Molecular analyses were done for 11 patients,10 had novel mutations. Conclusion: Defects of ketolysis are rare but must be included in the differential diagnosis of organic acidemias. The differences from organic acidemias are persistent ketosis independent from nutritional status and absence of typical acylcarnitine and organic acid profiles. But, SCOT and T2 deficiencies do not require severe protein restriction and cofactor supplementation compared to organic acidemias. As a consequence, they do not interfere with life quality and growth like organic acidemias.
Field : Sağlık Bilimleri
Journal Type : Ulusal
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