title: Challenges and pitfalls in the management of phenylketonuria.
abstract: Despite recent advances in the management of phenylketonuria and hyperphenylalaninemia, important questions on the management of this disorder remain unanswered. Consensus exists on the need for neonatal screening and early treatment, yet disagreement persists over threshold levels of blood phenylalanine for starting treatment, target blood phenylalanine levels, and the management of older patient groups. The mainstay of treatment is a phenylalanine-restricted diet, but its application varies between and within countries. Beyond diet treatment, there is a lack of consensus on the use of newer treatments such as tetrahydrobiopterin. Although neonatal screening and early treatment has meant that most well-treated children grow up with near-normal IQ scores, the effect of relaxing metabolic control on cognitive and executive function later in life is still not fully understood. Although it is clear from the available literature that the active control of blood phenylalanine levels is of vital importance, there are other treatment-related factors that affect outcome. A uniform and firmly evidence-based approach to the management of phenylketonuria is required.
authors.affiliation: Service de Médecine Infantile 1, Centre de Référence des Maladies Héréditaires du Métabolisme, INSERM U 954, CHU Brabois Enfants, Vandoeuvre les Nancy, France.
authors.forename: François
authors.initials: F
authors.lastname: Feillet
authors.forename: Francjan J
authors.initials: FJ
authors.lastname: van Spronsen
authors.forename: Anita
authors.initials: A
authors.lastname: MacDonald
authors.forename: Friedrich K
authors.initials: FK
authors.lastname: Trefz
authors.forename: Mübeccel
authors.initials: M
authors.lastname: Demirkol
authors.forename: Marcello
authors.initials: M
authors.lastname: Giovannini
authors.forename: Amaya
authors.initials: A
authors.lastname: Bélanger-Quintana
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
mesh_terms: D001708:Biopterins / Q000031:analogs & derivatives / Q000627:therapeutic use; D001921:Brain / Q000378:metabolism; D003072:Cognition Disorders / Q000175:diagnosis / Q000453:epidemiology; D032921:Consensus; D006130:Growth Disorders / Q000097:blood / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D009483:Neuropsychological Tests; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000097:blood / Q000188:drug therapy* / Q000453:epidemiology; D017211:Treatment Failure
chemical_list: D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin