The UK NSC recommendation on Long Chain Hyroxyacyl CoA Dehydrogenase Deficiency
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 Inherited Metabolic Disease Group
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 documentsBirth Prevalence of Five Inherited Metabolic Diseases (PDF document, 513KB, 06/05/14)
Consultation Responses to the 2014 ENBS Review (PDF document, 1.03MB, 06/05/14)
ENBS Health Economics Report (PDF document, 561KB, 06/05/14)
FAQs for the ENBS Review (PDF document, 117KB, 06/05/14)
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