Psychosocial adaptation of children and adolescents with phenylketonuria in Korea

Phenylketonuria (PKU) is one of the most common inherited metabolic disorders. If recognized and treated early, patients can avoid severe complications and maintain normal intellectual functioning. However, despite early and intensive treatment, several studies have reported an increased prevalence of psychiatric and behavioral symptoms, particularly in adulthood. The aim of this study was to investigate psychiatric manifestations in children and adolescents with PKU. The Korean version of the Child Behavior Checklist (K-CBCL) was used to assess psychopathology in 50 children with PKU and 50 healthy controls. Recent and mean phenylalanine (Phe) levels, as well as demographic information, were collected through retrospective chart review. Patients with PKU showed significantly higher scores in social, school, aggressive behavior, externalizing problems, and total behavior on the K-CBCL than healthy controls. Significant differences were found in total competence (p < 0.001), total behavior (p = 0.004), attention (p = 0.031), and emotional lability (p = 0.031) between clinical and non-clinical ranges. Later age at diagnosis was associated with increased anxiety, depression, thought problems, attention deficits, and emotional lability. Internalizing problems (p = 0.025), thought problems (p = 0.016), and delinquent behavior (p = 0.006) were positively correlated with recent and mean Phe levels. Internalizing problems (p = 0.004), attention (p = 0.008), and social problems (p = 0.016) were associated with variation in blood Phe levels. Children with PKU may experience greater psychosocial challenges than healthy children. Careful monitoring and control of Phe levels may reduce the risk of psychiatric symptoms in this population.