Outcomes of phenylketonuria with relevance to follow-up

Abstract

Currently, there is no international consensus onhow patients with phenylketonuria (PKU) (or milder formsof hyperphenylalaninaemia) should be followed in clinicalpractice. Guidelines concerning the frequency and type ofassessments that should be made according to age usuallyfocus on blood phenylalanine concentrations. A need existsfor improved guidelines on how to do the follow-up ofindividuals with PKU/milder forms of hyperphenylalaninaemia.An interdisciplinary approach for monitoringpatients is required, involving relevant clinical investigationsand regular contact with a clinician and dietician/nutritionist as well as contact with social health worker,psychologist and neurologist, at least at request. Thischapter presents a scheme for follow-up. However, by nomeans this scheme aims to present the one for all timefollow-up programme. The scheme for follow-up mayrather serve as a start for further discussion in larger groupsof professionals in collaboration with patients and theirparents. A number of questions remain unanswered, andfurther research is still needed to fine-tune the managementof PKU at different ages.