newborn screening programme
Homocystinuria (HCU) is a rare but serious inherited disorder. It prevents the breakdown of the amino acid, homocysteine. If not treated most children with HCU develop learning difficulties and eye problems. They may also develop bone abnormalities (osteoporosis), blood clots, or strokes.
UK NSC screening recommendation
The UK NSC has recommended screening for 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.
Supporting documents from the 2014 review
Screening around the UK
The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.
Date previous review completed: 2014
Next review estimated to be completed: 2021 to 2022.
To see previous evidence reviews, visit the UK NSC archive.
Organisations interested in HCU
These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.
List of organisations
- ArchAngel MLD Trust
- British Association of Perinatal Medicine
- British Inherited Metabolic Disease Group
- Clinical Genetics Society
- Faculty of Public Health
- Genetic Alliance UK
- Institute of Child Health
- Metabolic Support UK
- Royal College of General Practitioners
- Royal College of Midwives
- Royal College of Paediatrics and Child Health
- Royal College of Physicians
- Royal College of Physicians and Surgeons of Glasgow
- Royal College of Physicians of Edinburgh
- UK Newborn Screening Laboratories Network
If you think your organisation should be added, please contact us.