newborn screening programme

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Organic acid oxidation disorders

Organic acid disorders are a group of rare, inherited disorders. In these the body is not able to break down certain types of amino acids and fats. This leads to a build up of harmful compounds within the body. The age of onset, the type and severity of symptoms is variable. These conditions can lead to damage to vital organs, such as the brain, heart and liver.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in March 2016.

Screening is not currently recommended for this condition.

This policy covers the following organic acid metabolism disorders:

  • methylmalonic acidaemia (MMA)
  • propionic acidaemia (PA)

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
  • there is a lack of evidence on the impact of the wider issues associated with screening, including parents' carrier status

Supporting documents from the 2016 review

Evidence summary Methylmalonic acidaemia (2015)
This document provides the evidence on which the current UK NSC recommendation is based.

Evidence summary Propionic acidaemia (2015)
This document provides the evidence on which the current UK NSC recommendation is based.

UK NSC coversheet & consultation responses Organic acid oxidation disorders (2016)
This document summarises the review process including the public consultation comments.

Review cycle

Date previous review completed: 2016

Next review estimated to be completed: 2021 to 2022.

To see previous evidence reviews, visit the UK NSC archive.

Organisations interested in Organic acid oxidation disorders

These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.

List of organisations

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