Oral Health Status of Children and Adolescents With Phenylketonuria: A Case-Control Study

Phenylketonuria (PKU) is a genetic metabolic disorder affecting phenylalanine metabolism. While its neurological and skeletal impacts are well-documented, its influence on oral health is less understood. This study aimed to evaluate the oral health status of children and adolescents with PKU compared to healthy controls.

The case-control study included 136 children and adolescents aged 6-18 years, with 68 PKU patients and 68 healthy controls from February to June 2024. Oral hygiene practice was assessed from both groups. Oral health was assessed using the ICDAS, gingival index (GI), and basic periodontal examination (BPE) indices. Sweet nutrition consumption was also analyzed, and the relationship between serum phenylalanine (Phe) levels and oral health indices was examined.

Assessment of oral hygiene showed poorer oral hygiene in PKU patients, with 54.4% brushing less than once daily compared to 26.5% of controls (p < 0.001). PKU patients exhibited significantly higher ICDAS score compared to controls (median = 1.50 vs. 1.00, p = 0.045); however, the effect size was low (0.08). While the GI scores of the PKU patients was higher, the outcomes indicated insignificant results (median = 2.00 vs. 1.00, p = 0.487). The BPE scores exhibited significantly higher outcomes compared to controls (median = 2.00 vs. 1.00, p < 0.001) with a large effect size (0.53). The nutritional assessments indicated PKU patients consumed less sugary food overall. Moreover, serum Phe levels were not associated with ICDAS, GI, or BPE scores.

The findings underscore the importance of preventive oral care for PKU patients. A multidisciplinary approach involving dentists from the time of diagnosis of disease is recommended to ensure comprehensive dental and periodontal care, schedule regular appointments, and implementation of preventive strategies.