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Incidence of Neonatal Hyperphenylalaninemia in Fars Province, South Iran

Author(s): Hamdollah Karamifar | Mahtab Ordoei | Zohreh Karamizadeh | Gholamhossein Amirhakimi

Journal: Iranian Journal of Pediatrics
ISSN 2008-2142

Volume: 20;
Issue: 2;
Start page: 216;
Date: 2010;
Original page

Keywords: Hyperphenylalaninemia | PKU | BH4 | Screening | Newborn

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 Methods: In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Fars province for measurement of serum phenylalanine.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.
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