title: Newborn screening for homocystinuria.
abstract: BACKGROUND
  Homocystinuria is a rare inherited disorder due to a deficiency in cystathionine beta synthase. Individuals with this condition appear normal at birth but develop serious complications in childhood. Diagnosis and treatment started sufficiently early in life can effectively prevent or reduce the severity of these complications. This is an update of a previously published review.
  
  
  OBJECTIVE
  To determine if newborn population screening for the diagnosis of homocystinuria due to cystathionine beta synthase deficiency leads to clinical benefit compared to later clinical diagnosis.
  
  
  METHODS
  We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register.Date of the most recent search of the Inborn Errors of Metabolism Register: 08 June 2015.
  
  
  METHODS
  Randomised controlled trials and controlled clinical trials assessing the use of any neonatal screening test to diagnose infants with homocystinuria before the condition becomes clinically evident. Eligible studies compare a screened population versus a non-screened population.
  
  
  METHODS
  No studies were identified for inclusion in the review.
  
  
  RESULTS
  No studies were identified for inclusion in the review.
  
  
  CONCLUSIONS
  We were unable to identify eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on controlled studies; however, we are aware of uncontrolled case-series which support the efficacy of newborn screening for homocystinuria and its early treatment. Any future randomised controlled trial would need to be both multicentre and long term in order to provide robust evidence for or against screening and to allow a cost effectiveness analysis to be undertaken.
authors.affiliation: Willink Biochemical Genetics Unit, Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester, UK, M13 9WL.
authors.forename: John H
authors.initials: JH
authors.lastname: Walter
authors.forename: Nikki
authors.initials: N
authors.lastname: Jahnke
authors.forename: Tracey
authors.initials: T
authors.lastname: Remmington
mesh_terms: D003541:Cystathionine beta-Synthase / Q000172:deficiency*; D042241:Early Diagnosis; D006712:Homocystinuria / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening
chemical_list: D003541:Cystathionine beta-Synthase