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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 1018-4406
Vol. 20, No. 2, 2010, pp. 216-220
Bioline Code: pe10031
Full paper language: English
Document type: Research Article
Document available free of charge

Iranian Journal of Pediatrics, Vol. 20, No. 2, 2010, pp. 216-220

 en Incidence of neonatal hyperphenylalaninemia in Fars province, Southern Iran
Karamifar, Hamdollah; Ordoei, Mahtab; Karamizadeh, Zohreh & Amirhakimi, Gholamhossein

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Methods: In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Fars province for measurement of serum phenylalanine.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 ≥ 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 ≥2mg/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 BHP, 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.

Keywords
Hyperphenylalaninemia; PKU; BH4; Screening; Newborn

 
© Copyright 2010 Iran Journal of Pediatrics.
Alternative site location: http://diglib.tums.ac.ir/pub/

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