newborn screening programme

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.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in March 2022.

Screening is not currently recommended for this condition.

Screening newborns for biotinidase deficiency is not recommended because:

  • it is not known how many people in the UK have the condition
  • only limited evidence (not from the UK) was found on a range of different screening tests

Supporting documents from the 2022 review

Evidence map
This document investigates whether a more detailed review can be conducted based on the available evidence.

Coversheet
This document summarises the review process including the public consultation comments.

Supporting documents from the 2018 review

In 2018, the UK NSC did not recommend screening for this condition.

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.

Review cycle

Date previous review completed: 2022

Next review estimated to be completed: 2025 to 2026.

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

If you think your organisation should be added, please contact us. More information for organisation can be found in appendix C of the UK NSC evidence review process.