Management of phenylketonuria and hyperphenylalaninemia.
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.
de Baulny
Hélène Ogier
HO
Service de Neurologie et Maladies Métaboliques, Hôpital R. Debré, Assistance Publique des Hôpitaux de Paris, 75019 Paris, France. helene.ogier@rdb.aphp.fr
Abadie
Véronique
V
Feillet
François
F
de Parscau
Loïc
L
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
D010649:Phenylalanine