Volume 36, Issue 2 (6-2025)
Studies in Medical Sciences 2025, 36(2): 137-142 |
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Ethics code: IR.UMSU.REC.1400.115
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Abbasi E, Ghazavi A, Jambor Rashidi M. Assessment of Demographic, Clinical, and Paraclinical Characteristics of Children with Phenylketonuria in West Azerbaijan Province (2012–2021). Studies in Medical Sciences 2025; 36 (2) :137-142
URL: http://umj.umsu.ac.ir/article-1-6433-en.html
URL: http://umj.umsu.ac.ir/article-1-6433-en.html
Department of Pediatric Diseases, Faculty of Medicine, Urmia University of Medical Science, Urmia, Iran , ghazavi.a@umsu.ac.ir
Abstract: (27 Views)
Background Phenylketonuria is among the most common inherited metabolic disorders and, if not diagnosed and treated promptly, can result in severe disability. Since 2006, neonatal screening for Phenylketonuria has been implemented in Iran. This study aimed to investigate the demographic, clinical, and paraclinical characteristics of children with PKU in West Azerbaijan Province.
Methods This descriptive cross-sectional study included all children diagnosed with Phenylketonuria through the national newborn screening program between 2012 and 2021. Data on demographic, paraclinical, anthropometric, and neurological features were collected using a researcher-designed checklist and analyzed with SPSS version 21.
Results Of 130 identified cases, data from 46 children were analyzed. The mean age was 76.6 months, and 56.5% of the participants were female. A family history of Phenylketonuria was reported in 4.3% of cases, while 33.1% were born to consanguineous parents. Good dietary adherence was observed in 69.6% of patients. The mean phenylalanine level was 5.8 ± 4.2 mg/dL, with 41.3% exceeding the normal range. Anemia was present in 17.4% of cases, elevated AST in 15.2%, and ferritin deficiency in 4.3%. No patients exhibited motor or speech delay or seizures.
Conclusion Although the national screening program has facilitated early diagnosis, challenges persist in maintaining optimal phenylalanine levels and ensuring dietary adherence in some patients. Continuous follow-up, family education, and careful monitoring of nutritional and biochemical status are critical to preventing complications.
Methods This descriptive cross-sectional study included all children diagnosed with Phenylketonuria through the national newborn screening program between 2012 and 2021. Data on demographic, paraclinical, anthropometric, and neurological features were collected using a researcher-designed checklist and analyzed with SPSS version 21.
Results Of 130 identified cases, data from 46 children were analyzed. The mean age was 76.6 months, and 56.5% of the participants were female. A family history of Phenylketonuria was reported in 4.3% of cases, while 33.1% were born to consanguineous parents. Good dietary adherence was observed in 69.6% of patients. The mean phenylalanine level was 5.8 ± 4.2 mg/dL, with 41.3% exceeding the normal range. Anemia was present in 17.4% of cases, elevated AST in 15.2%, and ferritin deficiency in 4.3%. No patients exhibited motor or speech delay or seizures.
Conclusion Although the national screening program has facilitated early diagnosis, challenges persist in maintaining optimal phenylalanine levels and ensuring dietary adherence in some patients. Continuous follow-up, family education, and careful monitoring of nutritional and biochemical status are critical to preventing complications.
Type of Study: Research |
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کودکان (عمومی)
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