The UK NSC recommendation on Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency (currently under review)

 

This recommendation is currently being reviewed as part of the UK NSC's regular review cycle of all policies.

The review process began in Dec 2017 and is estimated to be completed by Apr 2019.

Recommendation Systematic population screening programme not recommended
 
Key downloads
 

Find general information about population health screening.

More about LCHADD

LCHADD is a rare condition where a baby has problems breaking down certain types of fat to produce energy. People with LCHADD are missing an enzyme that helps them break down certain fats.

Babies with LCHADD become ill when their body cannot produce enough energy and develop symptoms including poor feeding, irritability, sleepiness, vomiting, breathing difficulties, floppiness and Low blood sugar (hypoglycaemia).

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.

Stakeholders

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
MetBio
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
Save Babies Through Screening Foundation UK
UK Newborn Screening Laboratories Network

The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.

Recommendation Review History

The policy for LCHADD screening was first recommended in 2014 following a one year evaluation of screening for this condition and four others that can present in newborns.

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