title: Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients.
abstract: BACKGROUND, RATIONALE, AND METHODS: Lesch-Nyhan disease is a rare, X-linked disorder due to hypoxanthine phosphoribosyltransferase deficiency. To evaluate reported benefit on mood and behavior obtained by the administration of S-adenosyl-L-methionine in this condition, we developed 2 quantitative evaluation tools, and used them to assess the effects of the drug in our population: the weekly questionnaire and the resistance to self-injurious behavior test. We performed an open-label, dose-escalation trial of the drug on 14 patients.
  
  
  RESULTS
  Four patients tolerated the drug and reported beneficial effects. The majority experienced worsened behavior. The 2 assessment tools demonstrated effectiveness in quantitatively evaluating the self-injurious behavior.
authors.affiliation: BIRD, Research Labs, Costozza di Longare, Vicenza, Italy. diego.dolcetta@birdfoundation.org
authors.forename: Diego
authors.initials: D
authors.lastname: Dolcetta
authors.forename: Pietro
authors.initials: P
authors.lastname: Parmigiani
authors.forename: Luigi
authors.initials: L
authors.lastname: Salmaso
authors.forename: Roberta
authors.initials: R
authors.lastname: Bernardelle
authors.forename: Ugo
authors.initials: U
authors.lastname: Cesari
authors.forename: Gilberto
authors.initials: G
authors.lastname: Andrighetto
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Baschirotto
authors.forename: William L
authors.initials: WL
authors.lastname: Nyhan
authors.forename: Uros
authors.initials: U
authors.lastname: Hladnik
mesh_terms: D000293:Adolescent; D000328:Adult; D000339:Affect / Q000187:drug effects*; D001519:Behavior / Q000187:drug effects*; D002648:Child; D004305:Dose-Response Relationship, Drug; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D007926:Lesch-Nyhan Syndrome / Q000188:drug therapy* / Q000235:genetics; D008875:Middle Aged; D011619:Psychotropic Drugs / Q000494:pharmacology / Q000627:therapeutic use; D012436:S-Adenosylmethionine / Q000494:pharmacology* / Q000627:therapeutic use*; D011795:Surveys and Questionnaires; D016896:Treatment Outcome
chemical_list: D011619:Psychotropic Drugs; D012436:S-Adenosylmethionine; D007041:Hypoxanthine Phosphoribosyltransferase