The UK NSC recommendation on Homocystinuria
Find general information about population health screening.
Why is screening recommended by UK NSC?
The UK NSC has recommended screening for Homocystinuria (HCU) within the current Newborn Blood Spot Screening Programme. Screening for this rare inherited amino acid disorder will identify babies early and lead to treatment to help prevent problems in the baby's development.
More about HCU
HCU is a rare disorder that prevents the breakdown of the amino acid, homocysteine.
Without treatment, most children with HCU have learning difficulties and problems with their eyes. They may also develop bone abnormalities (osteoporosis), blood clots, or strokes.
Some frequently asked questions were developed following the 2014 expanded newborn blood spot policy recommendations and can be found here.
Screening in the UK
Compare how screening is offered across the UK.
• British Inherited Metabolic Disease Group
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.
Recommendation Review History
The policy was first recommended in 2014 following the conclusion of a one year study between 2012 and 2013 that included HCU and four other conditions.
Related documentsBirth Prevalence of Five Inherited Metabolic Diseases (PDF document, 513KB, 06/05/14)
ENBS Consultation Comments (PDF document, 1.03MB, 06/05/14)
ENBS Health Economics Report (PDF document, 561KB, 06/05/14)
FAQs for the ENBS Review (PDF document, 117KB, 06/05/14)
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