Biotinidase deficiency
The UK NSC policy on Biotinidase deficiency screening in newborns
More Information
Biotinidase deficiency is one of the inborn errors of metabolism.
Policy Position
Screening should not be offered.
This policy was reviewed in Feb 2009 but no significant changes were made. It is due to be considered again in 2011/12, or earlier if significant new evidence emerges.
Evidence Supporting the Policy
The Child Health Sub-Group of the UK NSC reported to the UK NSC in 2004 that "at the present time it did not recommend that this programme should be included with other newborn biochemical screening", having reviewed two HTA reports on screening for inborn errors of metabolism. The NSC accepted this recommendation, aware of the review of the evidence that the sub-group had undertaken.
Health Technology Assessment 1997; Vol. 1: No.11. Neonatal screening for inborn errors of metabolism: a systematic review (Seymour et al)
Health Technology Assessment 1997 Vol 1: No. 7. Neonatal screening for inborn errors of metabolism: cost, yield and outcome (Pollitt et al)
Biotinidase deficiency review against UK NSC criteria (Sept 2004, see below)
Stakeholders
Children Living with Inherited Metabolic Diseases
Genetic Alliance UK
Royal College of Midwives
Royal College of Paediatrics and Child Health
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
