title: [Behavior problems in phenylketonuria. Attempt at a biochemical interpretation based on a personal case and a review of the literature].
abstract: We have presented the case of a 7 year old retarded child with psychotic like behavioral troubles. Biological studies are compatible with typical phenylketonuria. Two times, a low phenylalanine diet was followed by an improvement of the behavioral troubles, and the interruption of the diet by a relapse of these troubles. Biologically, an hyposerotoninergy was recorded by the lowering of the 5 HIAA renewal in CSF after probenecid, partially corrected by the low phenylalanine diet. From this personal case and a review of the literature, the authors discuss the biochemical interpretation of the behavioral troubles in the light of the serotoninergic deficit.
mesh_terms: D001921:Brain / Q000378:metabolism*; D002648:Child; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000096:biosynthesis; D019965:Neurocognitive Disorders / Q000178:diet therapy / Q000209:etiology* / Q000378:metabolism; D010649:Phenylalanine / Q000008:administration & dosage / Q000378:metabolism*; D010661:Phenylketonurias / Q000150:complications* / Q000178:diet therapy / Q000378:metabolism
chemical_list: D009419:Nerve Tissue Proteins; D010649:Phenylalanine
vernacular_title: Les troubles du comportement au cours de la phénylcétonurie. Essai d'interprétation biochimique à partir d'une observation personnelle et d'une revue de la littérature.