Fatty-acid oxidation disorders
The UK NSC policy on Fatty-acid oxidation disorders screening in newborns (except for MCADD)
More Information
Fatty-acid oxidation disorders are genetic metabolic deficiencies in which the body is unable to oxidise (breakdown) fatty acids to make energy because an enzyme is either missing or not working correctly.
» Read more about fatty-acid oxidation disorders on the Contact a Family website
Notes
This policy covers the following rare inherited fatty acid oxidation disorders:
- Carnitine uptake defect
- Long chain hydroxyacyl CoA dehydrogenase deficiency
- Trifunctional protein deficiency
- Very long chain acyl CoA dehydrogenase deficiency
The policy for Medium chain acyl CoA dehydrogenase deficiency (MCADD) is considered seperately.
Policy Position
Screening for these conditions should not be offered.
This policy was reviewed in Jun 2005 but no significant changes were made. It is due to be considered again in 2011/12, or earlier if significant new evidence emerges.
Evidence Supporting the Policy
Awaiting completion.
Stakeholders
Children Living with Inherited Metabolic Diseases
Genetic Alliance UK
Royal College of Midwives
Royal College of Paediatrics and Child Health
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
