title: [What should the paediatrician know about hyperphenylalaninaemia?].
abstract: Hyperphenylalaninaemias are defined by a blood phenylalanine over 2mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the reaction that converts phenylalanine into tyrosine. The hyperphenylalaninaemias are classified into benign or mild hyperphenylalaninaemias, or mild, moderate or classic phenylketonurias. Due to its delayed detection outside the neonatal period it causes severe mental retardation. Its detection along with congenital hypothyroidism has been part of the National Neonatal Screening Program since 1992 in Chile. This article aims to answer the most common questions asked by the paediatrician when faced with a patient with hyperphenylalaninaemias.
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas (LabGEM), Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile. Electronic address: pbravo@inta.uchile.cl.
authors.forename: Paulina
authors.initials: P
authors.lastname: Bravo
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas (LabGEM), Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Erna
authors.initials: E
authors.lastname: Raimann
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas (LabGEM), Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Juan Francisco
authors.initials: JF
authors.lastname: Cabello
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas (LabGEM), Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Carolina
authors.initials: C
authors.lastname: Arias
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas (LabGEM), Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Pilar
authors.initials: P
authors.lastname: Peredo
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas (LabGEM), Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Castro
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas (LabGEM), Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Valerie
authors.initials: V
authors.lastname: Hamilton
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas (LabGEM), Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Karen
authors.initials: K
authors.lastname: Campo
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas (LabGEM), Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Verónica
authors.initials: V
authors.lastname: Cornejo
mesh_terms: D002677:Chile; D057210:Delayed Diagnosis; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D010372:Pediatrics; D010649:Phenylalanine / Q000097:blood* / Q000378:metabolism; D010651:Phenylalanine Hydroxylase / Q000235:genetics / Q000378:metabolism; D010661:Phenylketonurias / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D014443:Tyrosine / Q000378:metabolism
chemical_list: D014443:Tyrosine; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase
keywords: Fenilalaninahidroxilasa; Hiperfenilalaninemias; Hyperphenylalaninaemia; Mental retardation; Pesquisa; Phenylalanine hydroxylase; Retardo mental; Screening