Title of article :
Incidence of Phenylketonuria in Southern Iran
Author/Authors :
Habib, Asadollah Pediatric Endocrinologist - PKU Center - Naderkazemi Clinic , Fallahzadeh, Mohammad Hossein Department of Pediatrics , Kazeroni, Hamid Reza Department of Medical Technology - Paramedical school , Ganjkarimi, Amir Hossein Head of Neonatal Screening Laboratory -Shiraz University of Medical Sciences - Shiraz
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 :
Phenylalanine , phenylketonuria , phenylalanine hydroxylase , tetrahydrobiopterin
Journal title :
Astroparticle Physics
