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Incidence of Phenylketonuria in Southern Iran
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نویسنده
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Habib Asadollah ,Fallahzadeh Mohammad Hossein ,Kazeroni Hamid Reza ,Ganjkarimi Amir Hossein
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منبع
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iranian journal of medical sciences - 2010 - دوره : 35 - شماره : 2 - صفحه:137 -139
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چکیده
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Background: phenylketonuria is a hereditary, autosomal recessivedisorder caused by deficiency of phenylalanine hydroxylaseor its cofactor tetrahydrobiopterin. the purpose ofthe present study was to evaluate the incidence of this disorderin southern iran.methods: all the neonates born between 22/dec/2004 and7/sep/2007 were screened and their blood samples were testedby colorimetric and high performance liquid chromatographymethods to obtain a diagnosis of phenylketonuria.results: of the screened newborns (87091 females and 88143males) 15 female and 13 male neonates were diagnosed definitelyas having phenylketonuria.conclusion: the incidence of phenylketonuria in girls andboys was 1.7 in 10000 and 1.5 in 10000, respectively (mean:1.6 in 10000) in southern iran (fars province).
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کلیدواژه
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Phenylalanine ,phenylketonuria ,phenylalaninehydroxylase ,tetrahydrobiopterin
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آدرس
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shiraz university of medical sciences, Naderkazemi Clinic, Pediatric Endocrinologist, PKU Center, ایران, shiraz university of medical sciences, Paramedical school, Department of Pediatrics, ایران, shiraz university of medical sciences, Paramedical school, Department of Medical Technology, ایران, shiraz university of medical sciences, Neonatal Screening Laboratory, ایران
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Authors
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