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Current UK NSC recommendations > Organic acid oxidation disorders

The UK NSC recommendation on Organic acid oxidation disorders screening in newborns

 
Recommendation Systematic population screening programme not recommended
Last review completed March 2016
Next review due in 2018/19
 
Key downloads
 

This policy covers the following rare inherited organic acid metabolism disorders:  

  • Methylmalonic acidaemia
  • Propionic acidemia

 

The current policy is that universal screening for these disorsers should not be offered.

 

NB: the policy for Phenylketonuria, Isovaleric acidemia and Maple syrup urine disease screening is considered separately.

 

Find general information about population health screening.

Why is screening not recommended by UK NSC?

Screening is not recommended because:

  • the quality of evidence from studies is not high enough to understand whether screening is of long term benefit
  • not enough is known about PA to identify those who will be severely affected and those who will not
  • it is also unclear from the guidelines how to treat babies who are detected with PA and MMA at screen that show no signs of being ill
  • the screening test for PA and MMA detects other conditions that may not be suitable for screening

More about Organic acid oxidation disorders

Organic acid disorders are a group of rare and inherited metabolic disorders where the body is not able to metabolise certain types of amino acids, lipids and cholesterol. Organic acids are metabolised in order to provide energy or to make other needed compounds. For people with organic acid oxidation disorders a mutation in a gene reduces the function of an enzyme needed to break down organic acids. This leads to a build up of harmful compounds within the body.

» Read more about organic acid disorders at the Climb National Information Centre for Metabolic Diseases website

Stakeholders

British Inherited Metabolic Disease Group
Children Living with Inherited Metabolic Diseases
Clinical Genetics Society
Genetic Alliance UK
Institute of Child Health
MetBio
Organic Acidaemias UK
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.

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