title: [Hyperphenylanalinemia and phenylketonuria. The importance of early diagnosis and follow up at a health center].
abstract: We made a review of the state of patients diagnosed of hyperphenylalaninemia in the Center for Neonatal Screening and managed in a Reference Center for Cataluña. The same protocol of treatment and follow up clinical-biochemical-dietitian was used in the 31 patients. The patients diagnosed early were classified in two groups using as criterion of selection the phenylalaninemia and the tolerance to exogen phenylalanine. In the first group we included children with levels of phenylalanine below 10 mg/dl and without dietary restriction, while the children of the second group had levels above 10 mg/dl and receiving dietetic restriction of this specific aminoacid. The evolution of all patients was satisfactory as we can observe on the results; in the same way the patients PKU diagnosed in late state were all with mental retardation. Finally we commented different problems presented in the management of this patients.
authors.affiliation: Servicio de Neurología, Hospital San Juan de Dios, Barcelona.
authors.forename: J
authors.initials: J
authors.lastname: Campistol Plana
authors.forename: L
authors.initials: L
authors.lastname: Alvarez Domińguez
authors.forename: A T
authors.initials: AT
authors.lastname: Riverola de Veciana
authors.forename: P
authors.initials: P
authors.lastname: Castillo Rivera
authors.forename: P
authors.initials: P
authors.lastname: Giner Soria
mesh_terms: D002648:Child; D002675:Child, Preschool; D004035:Diet Therapy; D006801:Humans; D007223:Infant; D008403:Mass Screening; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000178:diet therapy / Q000453:epidemiology; D013030:Spain / Q000453:epidemiology; D013997:Time Factors
chemical_list: D010649:Phenylalanine