Outcomes of phenylketonuria with relevance to follow-up.

ABSTRACT: Currently, there is no international consensus on how patients with phenylketonuria (PKU) (or milder forms of hyperphenylalaninaemia) should be followed in clinical practice. Guidelines concerning the frequency and type of assessments that should be made according to age usually focus on blood phenylalanine concentrations. A need exists for improved guidelines on how to do the follow-up of individuals with PKU/milder forms of hyperphenylalaninaemia. An interdisciplinary approach for monitoring patients is required, involving relevant clinical investigations and regular contact with a clinician and dietician/nutritionist as well as contact with social health worker, psychologist and neurologist, at least at request. This chapter presents a scheme for follow-up. However, by no means this sch

SUBMITTER: van Spronsen FJ 

PROVIDER: S-EPMC3509817 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature