The UK NSC recommendation on Biotinidase deficiency screening in newborns
||Systematic population screening programme not recommended
|Last review completed
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Newborn screening for biotinidase deficiency is not recommended.
There is insufficient evidence regarding the epidemiology and natural history of biotinidase deficiency in the UK. The clinical course of both profound and partial biotinidase deficiency is varied with some of those affected remaining asymptomatic into adolescence and adulthood. There are concerns about the practicality and reliability of current screening methods and insufficient evidence regarding TMS as an alternative method.
Find general information about population health screening.
Why is screening not recommended by UK NSC?
A national screening programme for Biotinidase Deficiency in newborns is not recommended because: -
- We don't know how common the condition is in the UK and how many babies are likely to be born with this 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 is needed if treatment is to be directed to those who need it.
- The current test is not suitable for screening large numbers of babies. Research into different tests is at an early stage and more information is 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 Inherited Metabolic Disease Group
• Children Living with Inherited Metabolic Diseases
• Genetic Alliance UK
• Royal College of Midwives
• Royal College of Paediatrics and Child Health
• 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
More information for stakeholders can be found in appendix C of the UK NSC evidence review process.
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