The UK NSC recommendation on Fatty-acid oxidation disorders screening in newborns (except for MCADD)
Find general information about population health screening.
Why is screening not recommended by UK NSC?
Following a review of the evidence against strict criteria, the UK NSC does not currently recommend screening for the Fatty-acid oxidation disorders; Carnitine uptake defect (CTD) and Very long chain acyl CoA dehydrogenase deficiency (VLCADD) in newborn babies. This is because: -
More about Fatty-acid oxidation disorders
In fatty acid oxidisation disorders a person has problems breaking down certain types of fat to produce energy.
In VLCADDD this is caused by a missing or faulty enzyme (a chemical found naturally in the body) that is responsible for breaking down certain fats.
In carnitine transporter deficiency a fault in the carnitine prevents transport of certain fats into areas of our cells so that they can be used for energy.
Fatty acid oxidisation disorders can affect children in different ways. Children with VLCADD and CTD 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.
• ALD Life
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 last review of fatty acid oxidisation disorders was completed in 2005.
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