objectives: the main objective of this study was to investigate the association of psychological factors and life stressors with quality of life in caregivers of children with pku. methods: participants were caregivers of children with pku who were referred to a child and adolescent consultation-liaison psychiatry clinic for a clinical follow up. their demographic characteristics were recorded ...

phenylketonuria (pku) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (pah) gene. pku has wide allelic heterogeneity. here we report a novel heterozygous substitution (c.1223g>t (p.arg408leu)) in the pah gene in an iranian pku family. the patient was 19-yr-old female with diagnosis of moderate...