newborn screening programme
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
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.
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
- 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.