title: Optimising growth in phenylketonuria: current state of the clinical evidence base.
abstract: Patients with phenylketonuria (PKU) must follow a strict low-phenylalanine (Phe) diet in order to minimise the potentially disabling neuropsychological sequelae of the disorder. Research in this area has unsurprisingly focussed largely on managing blood Phe concentrations to protect the brain. Protein requirements in dietary management of PKU are met mostly from Phe-free protein substitutes with the intake of natural protein restricted to patient tolerance. Several reports have suggested that growth in early childhood in PKU is sub-optimal, relative to non-PKU control groups or reference populations. We reviewed the literature searching for evidence regarding PKU and growth as well as possible links between dietary management of PKU and growth. The search retrieved only limited evidence on the effect of PKU and its dietary management on growth. Physical development in PKU remains an under-studied aspect of this disorder.
authors.affiliation: Department of Metabolism and Nutrition, Dr von Hauner Children's Hospital, University of Munich, Munich, Germany.
authors.forename: Katharina
authors.initials: K
authors.lastname: Dokoupil
authors.forename: Hulya
authors.initials: H
authors.lastname: Gokmen-Ozel
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Lammardo
authors.forename: Kristina
authors.initials: K
authors.lastname: Motzfeldt
authors.forename: Martine
authors.initials: M
authors.lastname: Robert
authors.forename: Júlio César
authors.initials: JC
authors.lastname: Rocha
authors.forename: Margreet
authors.initials: M
authors.lastname: van Rijn
authors.forename: Kirsten
authors.initials: K
authors.lastname: Ahring
authors.forename: Amaya
authors.initials: A
authors.lastname: Bélanger-Quintana
authors.forename: Anita
authors.initials: A
authors.lastname: MacDonald
mesh_terms: D001921:Brain / Q000187:drug effects / Q000378:metabolism; D002648:Child; D002657:Child Development; D018753:Diet, Protein-Restricted / Q000379:methods*; D019317:Evidence-Based Medicine; D006128:Growth; D006801:Humans; D009752:Nutritional Status; D010649:Phenylalanine / Q000008:administration & dosage* / Q000097:blood; D010661:Phenylketonurias / Q000097:blood* / Q000178:diet therapy
chemical_list: D010649:Phenylalanine