Iranian Journal of Medical Sciences

Incidence of Phenylketonuria in Southern Iran

Document Type : Original Article(s)

Authors

Abstract
Background: Phenylketonuria is a hereditary, autosomal recessive disorder caused by deficiency of phenylalanine hydroxylase or its cofactor tetrahydrobiopterin. The purpose of the present study was to evaluate the incidence of this disorder in southern Iran. Methods: All the neonates born between 22/Dec/2004 and 7/Sep/2007 were screened and their blood samples were tested by colorimetric and high performance liquid chromatography methods to obtain a diagnosis of phenylketonuria. Results: Of the screened newborns (87091 females and 88143 males) 15 female and 13 male neonates were diagnosed definitely as having phenylketonuria. Conclusion: The incidence of phenylketonuria in girls and boys was 1.7 in 10000 and 1.5 in 10000, respectively (mean: 1.6 in 10000) in southern Iran (Fars province).

Keywords


Volume 35, Issue 2 - Serial Number 2
27
June 2010
Pages 137-139


  • Received 08 March 2015
  • Revised 24 August 2020
  • Accepted 24 December 2018