Overweight in classical phenylketonuria children: A retrospective cohort study

This cohort study aimed to determine the frequency of overweight and obesity in classical phenylketonuria children and to identify the possible influence of metabolic control on the BMI of the studied patients.

The study group included 63 classical phenylketonuria patients (40 girls and 23 boys; aged 5-16 years). Their z-score BMI, metabolic control, educational level of parents and socioeconomic status were determined.

Twenty children were overweight or obese and only three were underweight. The percentages of overweight and obese children were 31.7% for the whole group, 21.7% (5 out of 23) for boys and 37.5% (15 out of 40) for girls. Overweight and obesity in these phenylketonuria patients was statistically significantly more frequent when compared to national reference studies (p = 0.0031). The five-year index of dietary control and the percentage of spikes exceeding 6 and 12 mg/dl (Spikes 6 and 12) indicated better metabolic control in the case of normal weight children than those who were overweight and obese (p < 0.049, p < 0.041 and p < 0.011, respectively). The odds ratio of being overweight or obese for those having poorer metabolic control (values higher vs lower than mean) was statistically significantly higher than for the remaining patients (for Spikes 12: 6.926 < 95%CI: 2.011-23.854 > ; p < 0.002). These results strongly suggest a link between overweight and diet non-compliance.

Children with classical phenylketonuria presented higher odds of being overweight or obese as compared with reference national studies, with girls only having a higher frequency of overweight.