newborn screening programme

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LCHADD

LCHADD stands for long chain 3-hydroxyacyl-CoA dehydrogenase deficiency. It is a very rare condition where a person is missing a certain protein and is unable to break down certain fats. This means they cannot produce enough energy and become ill. Without treatment babies can develop heart problems, go into a coma and it can cause death. Treatment involves changing the 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 August 2019.

Screening is not currently recommended for this condition.

Screening babies for LCHADD is not recommended because:

  • It is not clear what the best test is or whether screening on day 5 would identify affected babies before symptoms begin
  • it is uncertain if screening would be effective at improving health outcomes

Supporting documents from the 2019 review

Evidence Summary LCHADD (2019)
This document provides the evidence on which the current UK NSC recommendation is based.

UK NSC coversheet & consultation responses LCHADD (2019)
This document summarises the review process including the public consultation comments.

Review cycle

Date previous review completed: 2019

Next review estimated to be completed: 2022 to 2023.

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

Organisations interested in LCHADD

These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.

List of organisations

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