newborn screening programme
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
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
This document investigates whether a more detailed review can be conducted based on the available evidence.
This document summarises the review process including the public consultation comments.
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
- Alex - The Leukodystrophy Charity
- British Association of Perinatal Medicine
- British Inherited Metabolic Disease Group
- Faculty of Public Health
- Metabolic Support UK
- Royal College of General Practitioners
- Royal College of Paediatrics and Child Health
- Royal College of Physicians
- Royal College of Physicians and Surgeons of Glasgow
- Royal College of Physicians of Edinburgh
- UK Newborn Screening Laboratories Network
- Zellweger UK
If you think your organisation should be added, please contact us.