The annual call for new topics in now open
We welcome you to propose a new health condition for a screening programme that is not already considered by the UK NSC.
Please download the form and read the guidance at the end of this link to make a proposal.
The deadline for submissions is 16th December 2018. For more information please see this blog.

The UK NSC recommendation on Long Chain Hyroxyacyl CoA Dehydrogenase Deficiency

Recommendation Systematic population screening programme not recommended
Last review completed May 2014
Next review due in 2017/18
Key downloads

Systematic population screening is not recommended.


The UK NSC recommends that NHS England look at focused training for neonatal clinicians to raise awareness of the symptoms of LCHADD and other metabolic disorders, as good clinical management remains the most effective method for ensuring the best outcomes for those babies affected.


Find general information about population health screening.

Why is screening not recommended by UK NSC?

The UK NSC recommends against population screening because a one year study evaluating screening for LCHADD found that there was no evidence that the test was effective at diagnosing the condition in babies that had no previous symptoms.

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 (a chemical found naturally in the body) that helps them break down certain fats.

LCHADD may affect different babies in different ways. 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.

Some frequently asked questions were developed following the 2014 expanded newborn blood spot policy recommendations and can be found here.


British Association of Perinatal Medicine
British Inherited Metabolic Disease Group
Children Living with Inherited Metabolic Diseases
Clinical Genetics Society
Faculty of Public Health
Genetic Alliance UK
Institute of Child Health
Rare Disease 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
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.

Related documents

icon Birth Prevalence of Five Inherited Metabolic Diseases (PDF document, 513KB, 06/05/14)
icon Consultation Responses to the 2014 ENBS Review (PDF document, 1.03MB, 06/05/14)
icon ENBS Health Economics Report (PDF document, 561KB, 06/05/14)
icon FAQs for the ENBS Review (PDF document, 117KB, 06/05/14)

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