newborn screening programme

ALD

Adrenoleukodystrophy (ALD) is a rare inherited condition where certain fats cannot be broken down by the body. These fats build up and can affect the nervous system and the adrenal glands, which produce hormones.

Symptoms of ALD can include dizziness, visual and hearing problems, coordination difficulties, stiffness and weakness in the legs. The condition worsens over time, leading to gradual loss of physical and mental skills and early death. It is not possible to tell exactly how ALD will affect a person and it can even affect individuals differently within the same family.

ALD is more severe in males and can develop from childhood. Females who carry the faulty gene for ALD can develop symptoms in adulthood.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in March 2021.

Screening is not currently recommended for this condition.

The UK NSC commissioned an evidence map for newborn screening for ALD, which was published in 2021. The evidence map found limitations in both volume and type of evidence relating to:

  • incidence of ALD in the UK
  • how ALD might present over time
  • accuracy of screening tests

Studies on treatment tended to focus on describing how the condition progresses and is managed. There was very limited information on the outcome of treatment and whether it is more effective in individuals without symptoms, compared to those already presenting with symptoms.

Uncertainties remain about the impact of receiving an early diagnosis of ALD. This is particularly relevant for those who do not go on to develop the most severe form of ALD (childhood cerebral ALD) and for those babies identified with conditions other than ALD, for which there are no treatments.

For these reasons, an evidence summary is not currently justified, and the UK NSC recommendation remains that newborn screening for ALD is not recommended.

Supporting documents from the 2021 review

Evidence map
This document investigates whether a more detailed review can be conducted based on the available evidence.

Coversheet
This document summarises the review process including the public consultation comments.

Review cycle

Date previous review completed: 2021

Next review estimated to be completed: 2024 to 2025.

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

Organisations interested in ALD

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

List of organisations

If you think your organisation should be added, please contact us. More information for organisation can be found in appendix C of the UK NSC evidence review process.