title: Genistein supplementation in patients affected by Sanfilippo disease.
abstract: BACKGROUND
  Mucopolysaccharidosis type III (Sanfilippo syndrome) is a group of autosomal recessive disorders caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulfate. Genistein supplementation has been proposed as a potential therapy for the reduction of substrates in patients with these disorders.
  
  
  OBJECTIVE
  The aim of this study was to assess the effectiveness and potential side effects of genistein supplementation in MPS III patients.
  
  
  METHODS
  Open-label study, with 19 children (10 males and 9 females) enrolled with confirmed diagnosis of MPS III (age range 2.8-19 years). Patients were supplemented with genistein (5 mg kg(-1) day(-1)) for 1 year. Clinical evaluation, hair morphology, urinary glycosaminoglycan analysis, study of nutritional parameters, and other routine biochemical tests were performed.
  
  
  RESULTS
  We did not observe an improvement in the disability scale; after genistein treatment, in most patients there was an increased disability score or it remained unchanged. There was a relative decrease in the recurrence of infections and gastrointestinal symptoms, as well as improvement in skin texture and hair morphology. Glycosaminoglycan levels were above normal at all control points and showed great variability in their elimination.
  
  
  CONCLUSIONS
  Our results suggest that genistein supplementation at 5 mg kg(-1) day(-1) did not improve disability estimated by using a particular scale.
authors.affiliation: Neuropediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Verónica
authors.initials: V
authors.lastname: Delgadillo
authors.forename: Maria Del Mar
authors.initials: Mdel M
authors.lastname: O'Callaghan
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.forename: Mercedes
authors.initials: M
authors.lastname: Pineda
mesh_terms: D000284:Administration, Oral; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019587:Dietary Supplements / Q000009:adverse effects; D004334:Drug Administration Schedule; D005260:Female; D019833:Genistein / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D009084:Mucopolysaccharidosis III / Q000188:drug therapy*; D010865:Pilot Projects; D011788:Quality of Life; D012720:Severity of Illness Index; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D019833:Genistein