title: Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.
abstract: OBJECTIVE
  Biotinidase deficiency, if untreated, usually results in neurological and cutaneous symptoms. Biotin supplementation markedly improves and likely prevents symptoms in those treated early. All states in the United States and many countries perform newborn screening for biotinidase deficiency. However, there are few studies about the outcomes of the individuals identified by newborn screening.
  
  
  METHODS
  We report the outcomes of 142 children with biotinidase deficiency identified by newborn screening in Michigan over a 25-year period and followed in our clinic; 22 had profound deficiency and 120 had partial deficiency.
  
  
  RESULTS
  Individuals with profound biotinidase and partial deficiency identified by newborn screening were started on biotin therapy soon after birth. With good compliance, these children appeared to have normal physical and cognitive development. Although some children exhibited mild clinical problems, these are unlikely attributable to the disorder. Biotin therapy appears to prevent the development of neurological and cutaneous problems in our population.
  
  
  CONCLUSIONS
  Individuals with biotinidase deficiency ascertained by newborn screening and treated since birth appeared to exhibit normal physical and cognitive development. If an individual does develop symptoms, after compliance and dosage issues are excluded, then other causes must be considered.Genet Med 17 3, 205-209.
authors.affiliation: Department of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan, USA.
authors.forename: Allison M
authors.initials: AM
authors.lastname: Jay
authors.affiliation: Department of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan, USA.
authors.forename: Robert L
authors.initials: RL
authors.lastname: Conway
authors.affiliation: 1] Department of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan, USA [2] Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan, USA [3] Department of Pathology, Wayne State University School of Medicine, Detroit, Michigan, USA.
authors.forename: Gerald L
authors.initials: GL
authors.lastname: Feldman
authors.affiliation: 1] Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan, USA [2] Department of Pathology, Wayne State University School of Medicine, Detroit, Michigan, USA.
authors.forename: Fatimah
authors.initials: F
authors.lastname: Nahhas
authors.affiliation: Department of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan, USA.
authors.forename: Linda
authors.initials: L
authors.lastname: Spencer
authors.affiliation: 1] Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan, USA [2] Genetics Research Laboratory, Department of Research Administration, Henry Ford Hospital, Detroit, Michigan, USA.
authors.forename: Barry
authors.initials: B
authors.lastname: Wolf
mesh_terms: D001710:Biotin / Q000627:therapeutic use*; D043523:Biotinidase / Q000235:genetics; D028921:Biotinidase Deficiency / Q000175:diagnosis* / Q000178:diet therapy* / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D008824:Michigan; D015997:Neonatal Screening / Q000379:methods*; D012189:Retrospective Studies; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000627:therapeutic use*
chemical_list: D014803:Vitamin B Complex; D001710:Biotin; D043523:Biotinidase