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The UK NSC recommendation on Homocystinuria

Recommendation Systematic population screening programme recommended
Last review completed May 2014
Next review due in 2017/18
Key downloads



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
Children Living with Inherited Metabolic Diseases
Clinical Genetics Society
Genetic Alliance UK
Institute of Child Health
Rare Disease UK
Royal College of General Practitioners
Royal College of Midwives
Royal College of Paediatrics and Child Health
Save Babies Through Screening Foundation UK
UK Newborn Screening Laboratories Network

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 documents

icon Birth Prevalence of Five Inherited Metabolic Diseases (PDF document, 513KB, 06/05/14)
icon ENBS Consultation Comments (PDF document, 1.03MB, 06/05/14)
icon ENBS Health Economics Report (PDF document, 561KB, 06/05/14)
icon FAQs for the ENBS Review (PDF document, 117KB, 06/05/14)

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