Incidence of neonatal hyperphenylalaninemia in pars province, South Iran

ABSTRACT

Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin [BH[4], 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 Pars province, south of Iran. In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Pars province for measurement of serum phenylalanine. The samples with a serum level of >/= 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. Nine out of 76966 newborns had a serum phenylalanine level >/= 2mg/dl, of which 8 cases were confirmed by HPLC. The incidence of the disease was 110000. 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. These findings indicate a high incidence of hyperphenylalaninemia, in the newborns from Pars province. The high incidence makes a comprehensive screening program "for management of the disease necessary