Incidence of Phenylketonuria in Southern Iran
AbstractBackground: 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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Shiraz University of Medical Sciences
2010-06-01
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| Series: | Iranian Journal of Medical Sciences |
| Subjects: | |
| Online Access: | http://ijms.sums.ac.ir/files/PDFfiles/35_2_08-Dr.%20Habib.pdf |
| Summary: | AbstractBackground: 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).Iran J Med Sci 2010; 35(2): 137-139. |
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| ISSN: | 0253-0716 1735-3688 |