title: [Malignant phenylketonuria caused by biopterin synthetase deficiency. Study of neuromediator catabolites in the cerebrospinal fluid during treatment].
abstract: In a child presenting with malignant phenylketonuria due to dihydrobiopterin synthetase deficiency, the authors studied the cerebrospinal fluid (CSF) homovanillic acid and 5 hydroxyindole acetic acid levels under different circumstances: without treatment; under a treatment with tetrahydrobiopterin used alone at various doses; under a treatment associating BH4, L-dopa, 5 hydroxytryptophan and carbidopa, with increasing doses and varying administration schedules. This biological study compared with clinical evolution, shows clearly the inefficacy, regardless of the doses, of BH4 on the CSF levels of neuromediators and on the neurological status, and the excellent efficacy of neuromediator precursors provided high doses are given, divided in the nyctohemeral period.
mesh_terms: D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D001708:Biopterins / Q000031:analogs & derivatives / Q000627:therapeutic use; D002230:Carbidopa / Q000627:therapeutic use; D005500:Follow-Up Studies; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D007223:Infant; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D018377:Neurotransmitter Agents / Q000378:metabolism*; D010661:Phenylketonurias / Q000188:drug therapy* / Q000209:etiology / Q000378:metabolism; D012701:Serotonin / Q000627:therapeutic use
chemical_list: D018377:Neurotransmitter Agents; D001708:Biopterins; D012701:Serotonin; D007980:Levodopa; D006897:Hydroxyindoleacetic Acid; C020037:7,8-dihydrobiopterin synthetase; D000429:Alcohol Oxidoreductases; C003402:sapropterin; D002230:Carbidopa; D006719:Homovanillic Acid
vernacular_title: Phénylcétonurie maligne par déficit en bioptérine synthétase. Etude des catabolites des neuro-médiateurs dans le LCR au cours du traitement.