%0 Journal Article
%T Incidence of Neonatal Hyperphenylalaninemia in Fars Province, South Iran
%A Hamdollah Karamifar
%A Mahtab Ordoei
%A Zohreh Karamizadeh
%A Gholamhossein Amirhakimi
%J Iranian Journal of Pediatrics
%D 2010
%I Tehran University of Medical Sciences
%X Objective: Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin (BH4), deficiency causes accumulation of phenylalanine in body fluids and central nervous system. Considering the fact that hyperphenylalaninemia is a preventable cause of mental retardation in infants, the objective of this study was to determine the incidence of congenital hyperphenylalaninemia in Fars province, south of Iran.Methods: In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Fars province for measurement of serum phenylalanine. The samples with a serum level of 3 2 mg/dl were referred to pediatric endocrine clinic for confirmation and determination of the type of hyperphenylalaninemia by quantitive serum phenylalanine measurements by using High-Pressure liquid chromatography (HPLC) method.Findings: Nine out of 76966 newborns had a serum phenylalanine level 32mg/dl, of which 8 cases were confirmed by HPLC. The incidence of the disease was 1:10000. The incidence of mild hyperphenylalaninemia and phenylketonuria (PKU) among the patients was 62.5% and 37.5% respectively and the incidence of BH4 deficiency was 1/76966.Conclusion: These findings indicate a high incidence of hyperphenylalaninemia, in the newborns from Fars province. The high incidence makes a comprehensive screening program for management of the disease necessary.
%K Hyperphenylalaninemia
%K PKU
%K BH4
%K Screening
%K Newborn
%U http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/15609.pdf&manuscript_id=15609