title: [Pearl S. Buck, Literature Nobel Price, and phenylketonuria: a moving relationship].
abstract: Art and Medicine, in some occasions have singular contact points. An example of this is the life of the North American writer Pearl S. Buck, a Litterature Nobel Prize winner in 1938, and her relation with phenylketonuria and mental retardation. The present paper is a biographical sketch of this brilliant writer, whose only daughter had phenylketonuria, an inborn error of metabolism of low frequency. If this disease is not treated, it may cause mental retardation. At the same time, we point out some of the highlights of the discovery of this disorder in Norway in 1934, and the description of its first treatment in 1953. At the present time, the mental retardation that this disease causes, can be prevented by means of the neonatal screening.
authors.affiliation: Unidad de Genética de la Nutrición, Instituto Nacional de Pediatría-UNAM-SSA. amieva@servidor.unam.mx
authors.forename: M
authors.initials: M
authors.lastname: Vela Amieva
mesh_terms: D005260:Female; D049673:History, 20th Century; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000266:history; D008093:Literature, Modern / Q000266:history*; D008513:Medicine in Literature; D009613:Nobel Prize; D010661:Phenylketonurias / Q000150:complications / Q000266:history* / Q000628:therapy; D014481:United States
vernacular_title: Pearl S. Buck, premio Nobel de Literatura y la fenilcetonuria: una conmovedora relación.