title: [Pathogenesis of cerebral dysfunction in phenylketonuria].
abstract: Although the enzymatic etiology and the link between this and the accumulation of phenylalanine and its metabolites in phenylketonuria has been amply established, the pathogenesis of the brain dysfunction accompanying this inherited metabolic disease is still under research. Effects of phenylalanine and its metabolites, some leading to irreversible defective structural features in the nervous system, and others to reversible defective neurotransmission, are described as responsible of the mental retardation and other neurological and behavioural symptoms characteristic of phenylketonuria.
mesh_terms: D001921:Brain / Q000503:physiopathology*; D002395:Catecholamines / Q000096:biosynthesis; D006801:Humans; D007657:Ketone Bodies / Q000378:metabolism; D009185:Myelin Proteins / Q000096:biosynthesis; D010649:Phenylalanine / Q000096:biosynthesis; D010661:Phenylketonurias / Q000503:physiopathology*; D012701:Serotonin / Q000096:biosynthesis; D014443:Tyrosine / Q000378:metabolism
chemical_list: D002395:Catecholamines; D007657:Ketone Bodies; D009185:Myelin Proteins; D012701:Serotonin; D014443:Tyrosine; D010649:Phenylalanine
vernacular_title: Patogénesis de la disfunción cerebral en la fenilcetonuria.