The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study

Abstract Background Phenylketonuria (PKU) is an autosomal recessive inherited disorder characterised by a deficiency in phenylalanine hydroxylase. Untreated, PKU associated with wide range of cognitive and psychiatric sequelae. Contemporary management guidelines recommend lifetime dietary control (Phe) levels, however many individuals who discontinue subsequently suffer symptoms anxiety, depression disturbances to cognition. We undertook prospective cohort study patients early-treated phenylketonuria had ceased test the hypothesis that resumption improvements measures morbidity functioning. Methods re-initiated for monitored outcomes over twelve-month period. Assessments included objective function (measured proficiency index (CPI)), anxiety scales. General linear mixed model (GLMM) analyses were performed assess change psychometric variables from baseline twelve months after control. Results A total nine recruited. Mean age was 33 years (SD = 8.75), five female. time off 19.1 11.3), mean levels 1108 µmol/L 293). GLMM analysis demonstrated positive relationship between CPI on diet ( b 0.56 [95% CI 0.17, 0.95]). Age, diet, Phe scores not function. There negative ? 0.88 95% [? 1.26, 0.50]) ratings 0.61, 0.95, 0.26]). Conclusions This function, PKU. Raw strongly or this cohort. These findings support importance lifelong treatment improving sequelae disease.