Erhan BAYRAM, Ali Haydar SEVER, Pakize KARAKAYA, Yasemin TOPÇU, Uluç YİŞ, Handan ÇAKMAKÇI, Nuray DUMAN, Nur ARSLAN, Semra Hız KURUL

İYİ KONTROLLÜ BİR NEONATAL SİTRÜLLİNEMİ OLGUSUNDA KÖTÜ KLİNİK BULGULAR

Klasik sitrüllinemi, arjininosüksinat sentetaz eksikliğinin neden olduğu, otozomal resesif geçişli bir metabolik hastalıktır. Başvurudaki klinik bulguları genellikle spesifik değildir ve neonatal metabolik dekompanzasyondan, erişkin başlangıçlı forma kadar değişkenlik gösterebilir. Kandaki nitrojen ve amonyağı elimine etmek amacıyla kullanılan sodyum benzoat, arjinin, fenilbutirat ve protein kısıtlaması esas tedavi yöntemleridir. Santral sinir sistemi hasarı ve ensefalopatinin oluşum mekanizmaları tam olarak anlaşılamamıştır. Yüksek serum amonyak konsantrasyonları ve intraserebral olarak astrositlerde glutamin birikiminin ensefalopatinin esas nedeni olduğu düşünülmektedir. Bu yazıda, ciddi hiperamonemisi olmadan hızlı bir şekilde klinik bulguları kötüleşen ve artmış kreatin kinaz değerleri saptanan 10 günlük bir infant sunulmuştur

Poor Clinical Outcome In A Good Controlled Neonatal Citrullinemia Patient

The classic citrullinemia is an autosomal recessive, metabolic disease that is caused by deficiency of the argininosuccinate synthetase. The clinical presentation is usually nonspecific and ranging from neonatal metabolic decompensation to adult onset form related to hyperammonemia and citrullinemia. Dietary protein restriction, the use of sodium benzoate arginine and phenylbutyrate are the main treatment strategies to eliminate the nitrogen and ammonia from the blood. The mechanisms responsible for the encephalopathy and central nervous system injury are not fully understood. High serum ammonia concentrations and intracerebral accumulation of glutamine in astrocytes is considered to be the major causes of the encephalopathy. Here, we described a 10 day old infant with neonatal citrullinemia without significant hyperammonemia, who had rapidly progressive clinical deterioration and elevated values of creatine kinase

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