سامانه کنگره های دانشگاه علوم پزشکی و خدمات بهداشتی و درمانی آذربایجان غربی

صفحه اصلی / بیستمین همایش سالیانه بیماری های شایع گوارش و کبد کودکان ایران و دومین همایش بین المللی چاقی کودکان

Phenylketonuria and Pediatric Obesity: A Comprehensive Systematic Review and Meta-Analysis

نویسندگان :

Sadra Khodaei Alamdari¹ Sajjad Moradi² Aylin Ebrahimpour³

1- دانشکده علوم پزشکی مراغه 2- دانشکده علوم پزشکی مراغه 3- دانشکده علوم پزشکی مراغه

کلمات کلیدی :

PKU،Pediatric Obesity،Children،Genetic Metabolic Disorder،Phenylketonuria

چکیده :

Abstract Background and Aim:Phenylketonuria (PKU) is a genetic metabolic disorder requiring strict dietary management to prevent neurological complications. Emerging evidence suggests potential metabolic implications, including altered body composition, but the relationship between PKU and obesity remains unclear. This meta-analysis evaluates whether children with PKU exhibit differences in BMI compared to healthy controls, with subgroup analyses based on PKU severity and diagnostic timing. Methods: We systematically reviewed 12 studies (600 participants) comparing BMI in PKU patients and controls. Subgroup analyses included: (1) classical PKU vs. controls, (2) early-diagnosed vs. late-diagnosed patients, and (3) mixed-diagnosis timing. Pooled standardized mean differences (SMD) with 95% confidence intervals were calculated using random-effects models. Heterogeneity was assessed via I² statistics. Results: Overall, PKU patients showed no significant BMI difference vs. controls (SMD = 0.12 [−0.04, 0.28], *I²* = 27%). However, classical PKU patients had higher BMI (SMD = 0.24 [0.04, 0.45], *I²* = 31%). Subgroup analyses revealed no BMI differences in early-diagnosed (SMD = 0.11 [−0.10, 0.31]) or mixed-diagnosis cohorts (SMD = 0.18 [−0.17, 0.52]), though heterogeneity was moderate (*I²* = 35–43%). Conclusion: Classical PKU may modestly increase the risk of obesity, potentially due to dietary restrictions or metabolic dysregulation, though early diagnosis and management appear protective. Given the rising prevalence of PKU in the general population, long-term multidisciplinary follow-up is essential, incorporating systematic nutritional monitoring and personalized dietary strategies to mitigate obesity while ensuring metabolic control. Further well-designed studies are needed to clarify this association and guide evidence-based clinical practice.