Int J Prev Med. 2017 Nov 07;8:93. doi: 10.4103/ijpvm.IJPVM_24_17. eCollection 2017.
Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015).
International journal of preventive medicine
Ali Abbaskhanian, Daniel Zamanfar, Parvaneh Afshar, Einollah Asadpoor, Hamed Rouhanizadeh, Ali Jafarnia, Mohammad Shokzadeh
Affiliations
Affiliations
- Department of Pediatrics, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
- Clinical Research Development Unit of Bou Ali-Sina Hospital, Mazandaran University of Medical Sciences, Sari, Iran.
- Diabetes Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
- Research and Development Unit of Referral Laboratory, Deputy of Health Management, Mazandaran University of Medical Sciences, Sari, Iran.
- Deputy of Health, Mazandaran University of Medical Sciences, Sari, Iran.
- Deputy of Health Management, Mazandaran University of Medical Sciences, Sari, Iran.
- Deputy of Health, Babol University of Medical Sciences, Babol, Iran.
- Department of Pharmacology, Faculty of Pharmacy, Mazandaran University of Medical Sciences, Sari, Iran.
PMID: 29184644
PMCID: PMC5686926 DOI: 10.4103/ijpvm.IJPVM_24_17
Abstract
BACKGROUND: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran.
METHODS: In this descriptive-retrospective study from 2007 to 2015, neonates PKU level was conducted by phenylalanine level based on a biochemical technique by ELISA and then by confirmatory methods high performance liquid chromatography.
RESULTS: Of the 407,244 screened newborns (48.7% girls and 51.3% boys), 14 girls and 13 boys were diagnosed definitely from 465 suspicious cases of PKU. The incidence of PKU was 0.66 in 10,000, which was noted in different severity (severe PKU - 1:67,874, mild PKU - 1:45,249, and HPA - 1:33,937). In addition, we did not detect any cases of nonclassic PKU.
CONCLUSIONS: Although the consanguineous marriage pattern is a major cause of hyperphenylalaninemia (HPA) particularly in Iranian, there was no significant difference between groups in this study. Now, screening should be executed for all of the family that they have the familial history of PKU in Iran. According to varies actual of prevalence and incidence rate of PKU reported a real patient and taking PKU with mild PKU and HPA, it is recommended, the will provide the PKU reports based on the severity of the disease.
Keywords: Chromatography high-pressure liquid; Iran; neonatal screening; phenylketonurias
Conflict of interest statement
There are no conflicts of interest.
References
- Clin Chim Acta. 1999 May;283(1-2):15-20 - PubMed
- J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Nov 15;877(30):3926-9 - PubMed
- MEDICC Rev. 2015 Jan;17(1):23-8 - PubMed
- Indian J Pediatr. 1982 Sep-Oct;49(400):685-8 - PubMed
- Clin Chim Acta. 2002 Mar;317(1-2):27-37 - PubMed
- J Clin Lab Anal. 2014 Jan;28(1):63-9 - PubMed
- Iran J Pediatr. 2010 Jun;20(2):216-20 - PubMed
- Mutat Res. 2003 May 15;526(1-2):45-52 - PubMed
- J Med Screen. 2016 Jun;23 (2):59-61 - PubMed
- Iran J Med Sci. 2015 May;40(3):292-3 - PubMed
- Food Chem. 2016 Feb 1;192:1060-7 - PubMed
- Indian J Endocrinol Metab. 2011 Apr;15(2):115-7 - PubMed
- World J Pediatr. 2009 May;5(2):136-9 - PubMed
- Southeast Asian J Trop Med Public Health. 2009 May;40(3):525-9 - PubMed
- J Inherit Metab Dis. 2002 Oct;25(6):519-21 - PubMed
- PLoS One. 2015 Aug 10;10(8):e0134782 - PubMed
- J Inherit Metab Dis. 1978;1(3):101-3 - PubMed
- Hum Mutat. 2007 Sep;28(9):831-45 - PubMed
- Eur J Hum Genet. 2012 Feb;20(2):null - PubMed
- Clin Chem. 1994 Feb;40(2):245-9 - PubMed
- Rev Med Chil. 2011 Oct;139(10):1356-64 - PubMed
- Genet Med. 2011 Aug;13(8):697-707 - PubMed
- Pediatrics. 2006 Sep;118(3):e934-63 - PubMed
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