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Current UK NSC recommendations > Fatty-acid oxidation disorders

The UK NSC recommendation on Fatty-acid oxidation disorders screening in newborns (except for MCADD)

Recommendation Systematic population screening programme not recommended
Last review completed June 2015
Next review due in 2018/19
Key downloads

This policy covers the following rare inherited fatty acid oxidation disorders:

  • Carnitine transporter deficiency
  • Very long chain acyl CoA dehydrogenase deficiency

The current recommendation is that screening for these conditions should not be offered.

NB: the policy for Medium chain acyl CoA dehydrogenase deficiency (MCADD) and Long chain hydroxyacyl CoA dehydrogenase deficiency (LCHADD) / Trifunctional protein deficiency (TFP) are considered separately.


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: -

  • It is not clear how accurate the screening test is for identifying those with the condition. In addition there is no way to identify those who will be severely affected and those who will not.
  • The tests will identify those who have one copy of the altered gene but the way this will affect their health is not understood.
  • There are available treatments for those with symptoms but it is not clear which babies detected by screening would need treatment or what the best treatment would be.

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
British Inherited Metabolic Disease Group
Children Living with Inherited Metabolic Diseases
Clinical Genetics Society
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
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 last review of fatty acid oxidisation disorders was completed in 2005.

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