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Supplement: Aromatic Amino Acids and Related Substances: Chemistry, Biology, Medicine, and Application: SESSION 3

Management of Phenylketonuria and Hyperphenylalaninemia^1,2

³ Service de Neurologie et Maladies Métaboliques, Hôpital R. Debré, Assistance Publique des Hôpitaux de Paris, 75019 Paris, France; ⁴ Fédération de Pédiatrie, Hôpital Necker-Enfants-Malades, Assistance Publique des Hôpitaux de Paris, 75015 Paris, France; ⁵ Service de Médecine Infantile, Hôpital d'enfants, 54511 Vandoeuvre, France; and ⁶ Département de Pédiatrie et Génétique Médicale, CHU de Morvan, 29609 Brest, France

^* To whom correspondence should be addressed. E-mail: helene.ogier{at}rdb.aphp.fr.

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 µmol/L). The dietary control must keep the phenylalanine levels between 2 and 5 mg/dL (120 and 300 µmol/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 µmol/L) in adulthood. A lifelong follow-up is recommended for PKU women to prevent for maternal PKU.

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