Document Detail

Incidence of neonatal hyperphenylalaninemia in fars province, South iran.
MedLine Citation:
PMID:  23056707     Owner:  NLM     Status:  PubMed-not-MEDLINE    
OBJECTIVE: 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 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METHODS: In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Fars province for measurement of serum phenylalanine.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 BH(4) 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.
Hamdollah Karamifar; Mahtab Ordoei; Zohreh Karamizadeh; Gholam Hossein Amirhakimi
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Iranian journal of pediatrics     Volume:  20     ISSN:  2008-2142     ISO Abbreviation:  Iran J Pediatr     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2012-10-11     Completed Date:  2012-10-12     Revised Date:  2013-05-30    
Medline Journal Info:
Nlm Unique ID:  101274724     Medline TA:  Iran J Pediatr     Country:  Iran    
Other Details:
Languages:  eng     Pagination:  216-20     Citation Subset:  -    
Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, IR Iran.
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