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Severe fulminant form of neonatal Citrullinemia : A case report
(2011) Şilfeler, İbrahim; Genenş, Mikayir; Sümengen, Dilek; Hamilcıkan, Şahin; Akşahin, Berna; Pekün, Fügen; Nuhoğlu, Asiye
Citrullinemia is a rare autonomic recessive disorder. The diagnosis of citrullinemia is based on biochemical analysis of blood, plasma, and urine, revealing increased levels of ammonia, citrulline, glutamine, and orotic acid. The patient was born as the first child of a non-consanguineous family without any known metabolic disorders. The patient was hospitalised in NICU because of dyspne, tachypnea, gastrointestinal bleeding and convulsions. A clear increase in ammonia (908 μmol/L) and citrulline levels was observed in metabolic screening. The patient was diagnosed as citrullinemia. The treatment was started with total potential nutrition without protein, and supplementation of arginine, and sodium benzoat. The patient died on the 38th day of life. Hyperammonemia in citrullinemia can occur either from a disorder of energy metabolism due to an absence of pyruvate carboxylase or from a disorder of the urea cycle. In our country, metabolic disease are serious health problems due to the high incidence o of consanguineous marriages. This case is reported to emphasize the importance of citrullinemia which is seen rarely.