Please note that the URL for this site has changed to a 'phe.org.uk' address from 'nhs.uk'. This reflects changes we have made to hosting for this site.
 

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.

Stakeholders

British Inherited Metabolic Disease Group
Children Living with Inherited Metabolic Diseases
Clinical Genetics Society
Genetic Alliance UK
Institute of Child Health
MetBio
Rare Disease UK
Royal College of General Practitioners
Royal College of Midwives
Royal College of Paediatrics and Child Health
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)

More options

Go to top