newborn screening programme

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Fatty-acid oxidation disorders

Fatty acid oxidisation disorders is the name for a group of disorders. In these disorders a person has problems breaking down certain types of fat. Without treatment babies can develop heart problems, go into a coma and can cause death. Treatment involves changing a person's diet so it is low in particular types of fat.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in June 2015.

Screening is not currently recommended for this condition.

Carnitine uptake defect (CTD) and Very long chain acyl CoA dehydrogenase deficiency (VLCADD) are fatty-acid oxidation disorders. The UK NSC does not currently recommend screening for these in newborn babies. This is because:

  • it is not known how accurate screening tests are
  • tests can not tell how severe a child's symptoms will be, screening may mean some are treated without need
  • it is not known how the health of babies with one copy of the altered gene will be affected
  • it is not clear if all babies detected through screening would need treatment or how to best care for them

Supporting documents from the 2015 review

Evidence summary Fatty acid oxidation disorders (2014)
This document provides the evidence on which the current UK NSC recommendation is based.

UK NSC coversheet & consultation responses Fatty acid oxidisation disorders (2015)
This document summarises the review process including the public consultation comments.

Review cycle

Date previous review completed: 2015

Next review estimated to be completed: 2021 to 2022.

To see previous evidence reviews, visit the UK NSC archive.

Organisations interested in Fatty-acid oxidation disorders

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.