Comparison of the frequency and pattern of clinical manifestations of patients with phenylketonuria in the two provinces of Sistan and Baluchestan and West Azerbaijan

Shafighi Shahri , Elham; Ehsasatvatan, Akram; Rigy Nejad , Sara

Volume 83, Issue 7 (October 2025) Tehran Univ Med J 2025, 83(7): 508-514 | Back to browse issues page

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Shafighi Shahri E, Ehsasatvatan A, Rigy Nejad S. Comparison of the frequency and pattern of clinical manifestations of patients with phenylketonuria in the two provinces of Sistan and Baluchestan and West Azerbaijan. Tehran Univ Med J 2025; 83 (7) :508-514
URL: http://tumj.tums.ac.ir/article-1-13742-en.html

Comparison of the frequency and pattern of clinical manifestations of patients with phenylketonuria in the two provinces of Sistan and Baluchestan and West Azerbaijan

Elham Shafighi Shahri¹

, Akram Ehsasatvatan ^*²

, Sara Rigy Nejad

1- Pediatric Department, Faculty of Medicine, Zahedan University Medical Sciences, Zahedan, Iran.
2- Pediatric Department, Faculty of Medicine, Urmia University Medical Sciences, Urmia, Iran. , ehsasatvatan@yahoo.com

Abstract: (13 Views)

Background: Phenylketonuria (PKU) is a genetic metabolic disorder that, if left untreated, leads to irreversible cognitive, behavioral, and neurological damage. Sistan and Baluchestan and West Azerbaijan provinces are among the regions that have reported high rates of the disease due to specific ethnic characteristics. This study aims to compare the frequency and pattern of clinical symptoms in the two provinces of Sistan and Baluchestan and West Azerbaijan.
Methods: This cross-sectional descriptive-analytical study was conducted on 60 patients with PKU who had been referred to Imam Ali Hospital (Zahedan) and Urmia Hospital during the past ten years. Data were collected from medical records and structured interviews.
Results: The mean age of the patients was 5.67 ± 6.98 years. The mean height, weight, and head circumference were 30.28 ± 113.08 cm, 13.22 ± 25.13 kg, and 1.83 ± 43.36 cm, respectively. The mean serum phenylalanine level at the time of diagnosis was 13.58 ± 14.65 mg/dL. Of the 60 patients, 31 (51.7%) were male and 29 (48.3%) were female. The difference between the two sexes in the occurrence of clinical symptoms was not statistically significant (p<0.05). Psychiatric disorders were reported in 20 (33.3%) of the patients. The prevalence of these disorders was significantly higher with increasing age (p = 0.041).
Conclusion: This study indicates the existence of significant regional differences in the clinical manifestations of phenylketonuria; such that patients from Sistan and Baluchestan province experienced a higher rate of psychiatric and neurological symptoms than patients from West Azerbaijan. The severity of symptoms increased with increasing age and duration of illness, emphasizing the importance of early diagnosis and continuous therapeutic follow-up. It was also noteworthy that some patients still had severe clinical symptoms despite having lower phenylalanine levels at diagnosis. Overall, the findings of this study emphasize the need for early diagnosis, equitable access to health services, and sustained metabolic control to improve outcomes for PKU patients in the country.

Keywords: clinical symptoms, mental disorders, phenylketonuria, serum phenylalanine.

Type of Study: Original Article |