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 Based on the last UK NSC review of this condition that occurred in May 2014.

Screening for this condition is recommended.

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.

Review cycle

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

If you think your organisation should be added, please contact us.