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Information Journal Paper

Title

INCIDENCE OF NEONATAL HYPERPHENYLALANINEMIA IN FARS PROVINCE, SOUTHERN IRAN

Pages

  216-220

Keywords

PKU 
BH4 
NEWBORN 

Abstract

 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in Fars province, south of Iran.Methods: In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Fars province for measurement of serum phenylalanine.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 ³2 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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    APA: Copy

    KARAMIFAR, H.A., ORDOUEI, M., KARAMIZADEH, Z., & AMIRHAKIMI, G.H.. (2010). INCIDENCE OF NEONATAL HYPERPHENYLALANINEMIA IN FARS PROVINCE, SOUTHERN IRAN. IRANIAN JOURNAL OF PEDIATRICS, 20(2), 216-220. SID. https://sid.ir/paper/560023/en

    Vancouver: Copy

    KARAMIFAR H.A., ORDOUEI M., KARAMIZADEH Z., AMIRHAKIMI G.H.. INCIDENCE OF NEONATAL HYPERPHENYLALANINEMIA IN FARS PROVINCE, SOUTHERN IRAN. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2010;20(2):216-220. Available from: https://sid.ir/paper/560023/en

    IEEE: Copy

    H.A. KARAMIFAR, M. ORDOUEI, Z. KARAMIZADEH, and G.H. AMIRHAKIMI, “INCIDENCE OF NEONATAL HYPERPHENYLALANINEMIA IN FARS PROVINCE, SOUTHERN IRAN,” IRANIAN JOURNAL OF PEDIATRICS, vol. 20, no. 2, pp. 216–220, 2010, [Online]. Available: https://sid.ir/paper/560023/en

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