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, depres...

Background: Phenylketonuria is a metabolic disorder resulting from defect in phenylalanine metabolism with global prevalence of 1 10000. Delayed initiation dietary modification leads to brain injury and cognitive behavioral problems. The main objective this study was assess the demographic social factors affecting control patients having phenylketonuria Southern Khorasan Province, Iran. Methods...

BACKGROUND Associations between genotype and intellectual outcome in patients with phenylketonuria are complicated because intelligence is influenced by many variables, including environmental factors and other genetic determinants. Intellectual changes with age, both on and after relaxation of diet, vary within the patient population. This study aims to determine whether a significant associat...