Üre döngüsü bozuklukları klinik, laboratuvar ve genetik özellikleri: Tek merkez deneyimi

Urea cycle disorders clinical, laboratory and genetic features: Single center experience Objective: Urea cycle disorders (UDD) are congenital metabolic disorders that occur as a result of the accumulation of ammonia, which is toxic to the body, in the blood. In our study, the clinical, laboratory, genetic and radiological features of our UDD patients were evaluated. Method: In our study, the clinical, laboratory, genetic and radiological features of 12 patients with UDD were evaluated retrospectively. Results: Four (33%) patients presented with acute metabolic crisis in the neonatal period. One of the patients (citrullinemia type I) was diagnosed as intrauterine and his treatment was started as soon as he was born. The age at presentation of the patients ranged from 0 days to 12 years. The most common complaint in 4 patients with neonatal onset was sepsis-like clinical presentation, vomiting and coma occurring within the first 6 days after birth. Coma, mental retardation, gait delay, spasticity (arginineemia), growth retardation (LPI), avoidance of protein foods (LPI, OTC deficiency) were predominant in patients diagnosed outside the neonatal period. The age at presentation of late-onset patients ranged from 2 years to 12 years. Only one of the seven late-onset patients showed normal growth and mental development. Conclusion: UDD can be encountered not only in the neonatal period, but also in every period of life. In the presence of clinical suspicion, diagnostic tests should be planned quickly. Early diagnosis significantly affects mortality and morbidity.