September 2015 Vol. 3 No. 9

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Original Research Article

Annual incidence of phenylketonuria in Sulaimani City

Prof. Dr. Adnan M.H. Hamawandi¹*, Assist. Prof. Dr. Jamal Ahmed Rashid²,
Heersh H.M.H. Raof Saeed³ and Omed M. Hawrami⁴
 

¹Department of Pediatrics, School of Medicine, University of Sulaimani, Head of Department, Professor in Pediatrics, Sulaimaniyah, Iraq.
²Department of Pediatrics, School of Medicine, University of Sulaimani, assistant professor in pediatrics, Sulaimaniyah, Iraq.
³Department of Pediatrics, School of Medicine, University of Sulaimani, Lecturer, Sulaimaniyah, Iraq.
⁴Sulaimani Pediatric Teaching Hospital, Senior House Officer, Sulaimaniyah, Iraq.

*Corresponding Author’s Email: adnan_alhamwandi@yahoo.co.uk
Mobile: (+) 964 770 2591646.

Accepted September 14, 2015

Abstract

Phenylketonuria (PKU) is a hereditary, autosomal recessive disorder characterized by severe hyperphenylalaninemia which if untreated , would invariably result in the development of signs and symptoms of classic PKU with profound intellectual disability. Newborn screening in Sulaimani city had started in 2013 for screening of (PKU), congenital hypothyroidism and G6PD deficiency. The purpose of the present study was to find out the annual incidence of PKU in sulaimani city. All neonates born in sulaimani city including all hospital deliveries (both private and public governmental hospitals) in addition to the home deliveries that were referred to (Registration Bureau of Births and Deaths) during the period January 1st to December 31st 2014 were included. A heel prick blood sample was taken from neonates and sent to Sulaimani Pediatric Teaching Hospital laboratory where phenylalanine level were estimated by ELISA method on the dried blood spot. From all the screened neonates (8.255cases) who were born in Sulaimani city, 11 cases were found to have a high level of serum phenylalanine from the first blood sample and after subsequent serum level assessment only one case was proven to have phenylketonuria and referred to nutritional rehabilitation center for therapy and follow up. The annual incidence of phenylketonuria in Sulaimani city was found to be 1.2 in 10.000 neonates.

Keywords: Phenylalanine, phenylketonuria, incidence, Sulaiamni