بررسي وضعيت آزمايشگاهي و باليني كودكان و نوجوانان مبتلا به فنيل كتونوري در استان آذربايجان شرقي

Study on Laboratory and Clinical Status of Children and Adolescents with Phenylketonuria in East-Azerbaijan

Background and Objectives: Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism that results in progressive mental retardation. Optimum outcome occurs when dietary therapy is started early and continued indefinitely. By now, PKU is not screened in our county and delay in diagnosis and treatment results in unfavorite outcome. This study was aimed to evaluate the status of children and adolescents with phenylketonuria in East- Azerbaijan. Materials and Methods: All of the PKU patients referred to Tabriz children Hospital in year 2007 were recruited in this descriptive-analytic and cross-sectional study. Results: Forty PKU patients (45% Male) with mean age of 5.3 ± 4 year old (4 months to 17 years) were studied. The mean age of diagnosis, mean duration from first visit to diagnosis, mean serum phenylalanine level at diagnosis and at study time, were 18.7 ± 17.7 months, 11.8 ± 15 months, 23.1 ± 8.2 and 15.9 ± 10.8 mg/dl consecutively. The most common symptom (40%) that led in diagnosis of the diseases was delay in sitting. 31.6% of above one year old patients were unable to walk and 52.6% of them were unable to speech. 77.5% of them had consanguineous parents and 30% experienced seizures. Conclusion: Neonatal screening of PKU and avoidance of consanguineous marriages beside a suitable program for treatment can largely prevent mental and motor disabilities of PKU in our area.