title: Management of phenylketonuria and hyperphenylalaninemia.
abstract: Hyperphenylalaninemia (HPA) is the most frequently inherited disorder of amino acid metabolism (prevalence 1:10,000). In France, a nationwide neonatal screening was organized in 1978 to control its efficacy and patient follow-up. Phenylketonuria (PKU) was diagnosed in 81.6% of screened patients, the remaining affected with either non-PKU HPA (17.2%) or with cofactor deficiency (1.1%). French guidelines were established to specify the minimal diagnosis procedures and optimal treatment of patients. A low-phenylalanine diet must be started within the first days of life for all newborns whose blood phenylalanine levels are above 10 mg/dL (600 micromol/L). The dietary control must keep the phenylalanine levels between 2 and 5 mg/dL (120 and 300 micromol/L) until 10 y of age. Thereafter, a progressive and controlled relaxation of the diet is allowed, keeping levels below 15 mg/dL until the end of adolescence and below 20 mg/dL (1200 micromol/L) in adulthood. A lifelong follow-up is recommended for PKU women to prevent for maternal PKU.
authors.affiliation: Service de Neurologie et Maladies Métaboliques, Hôpital R. Debré, Assistance Publique des Hôpitaux de Paris, 75019 Paris, France. helene.ogier@rdb.aphp.fr
authors.forename: Hélène Ogier
authors.initials: HO
authors.lastname: de Baulny
authors.forename: Véronique
authors.initials: V
authors.lastname: Abadie
authors.forename: François
authors.initials: F
authors.lastname: Feillet
authors.forename: Loïc
authors.initials: L
authors.lastname: de Parscau
mesh_terms: D002648:Child; D002675:Child, Preschool; D004035:Diet Therapy; D006801:Humans; D008991:Monitoring, Physiologic; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy* / Q000652:urine
chemical_list: D010649:Phenylalanine