The UK NSC recommendation on Biotinidase deficiency screening in newborns

Recommendation Systematic population screening programme not recommended
Last review completed April 2018
Next review due in 2021/22
Key downloads

Find general information about population health screening.

Why is screening not recommended by UK NSC?

The 2013 review found that a national screening programme for Biotinidase Deficiency in newborns was not recommended because: -

  • We didn't know how common the condition was in the UK and how many babies were likely to be born with the condition in the future.
  • While some people with the condition are badly affected, some remain well into adulthood and others never show obvious signs of being poorly. A better understanding of why the condition affects people in different ways was needed if treatment was to be directed to those who needed it.
  • The test was not suitable for screening large numbers of babies. Research into different tests was at an early stage and more information was needed.
  • Some countries offer screening for biotinidase deficiency but others don't. The lack of people with the condition has led to some countries withdrawing the screening programme.


More about Biotinidase deficiency

Biotinidase deficiency is one of the inborn errors of metabolism.

» Read more about biotidinase deficiency at the Climb National Information Centre for Metabolic Diseases website


British Association of Perinatal Medicine
British Inherited Metabolic Disease Group
Faculty of Public Health
Genetic Alliance UK
Metabolic Support UK
Royal College of General Practitioners
Royal College of Midwives
Royal College of Paediatrics and Child Health
Royal College of Physicians
Royal College of Physicians and Surgeons of Glasgow
Royal College of Physicians of Edinburgh
Save Babies Through Screening Foundation UK

The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.

Related documents

icon Review of newborn screening for bitotindase deficiency (2013) (PDF document, 643KB, 09/10/17)
icon Summary of Policy Recommendation and Consultation Responses for Biotidinase Deficiency (PDF document, 208KB, 04/07/13)
icon Summary_of_Policy_Recommendation_and_Consultation_Responses_for_Biotinidase_Deficiency (2013) (PDF document, 208KB, 09/10/17)

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