Amino acid metabolism disorders and PAH gene mutations in Southeastern Anatolia Region

Abstract

Abstract Objectives Inborn errors of metabolism are generally autosomal recessive inherited disorders. The incidence and genetic features of neonatal metabolic disorders vary significantly by regions and populations. In this study, we aimed to determine the amino acid metabolism disorders and evaluate the genetic test results of these patients retrospectively. Methods The blood samples collected from heel blood and dried on filter cards in the neonatal screening program, were analyzed for amino acid metabolism disorders by (LC)-MS/MS method. Patients with suspected metabolic diseases were diagnosed with NGS method. Results Amino acid metabolism disorders were detected in 66 of 2,104 patients who were screened for suspected neonatal metabolic disorders. Sixty-two of 66 patients were diagnosed with phenylketonuria, the rest of them were diagnosed with tyrosinemia type I, arginosuccinate lyase deficiency, citrullinemia type 1 and Maple Tree syrup disease. The most common PAH gene mutations were c.1208C>T (A403V). Conclusion Phenylketonuria was the most common disease among amino acid metabolism disorders in Şanlıurfa. There were different allele frequencies compared to the PAH mutations reported in previous studies. This may be due to the different characteristics of the populations and also the high rate of consanguineous marriage in our region.