newborn screening programme

Biotinidase deficiency

We are currently accepting public comments on this condition.
Closing date: 10th December 2021.
Scheduled UK NSC meeting date: March 2022.

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 April 2018.

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
  • 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.

Review cycle

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

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.