newborn screening programme
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.
UK NSC screening recommendation
Screening newborns for biotinidase deficiency is not recommended because:
- it is not known how many people in the UK have the condition
- some people found through screening will not become unwell and would be treated even though they might not need it
Supporting documents from the 2018 review
Evidence summary Biotinidase deficiency (2018)
This document provides the evidence on which the current UK NSC recommendation is based.
UK NSC coversheet & consultation responses Biotinidase deficiency (2018)
This document summarises the review process including the public consultation comments.
Date previous review completed: 2018
Next review estimated to be completed: 2021 to 2022.
To see previous evidence reviews, visit the UK NSC archive.
Organisations interested in Biotinidase deficiency
These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.
List of organisations
- ArchAngel MLD Trust
- 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