newborn screening programme

Metachromatic leukodystrophy

The UK NSC is consulting on whether to change its recommendation on this condition and is accepting public comments.

Closing date: 5th August 2025.

Scheduled UK NSC meeting date: November 2025.

PLEASE NOTE: To respond to this 2025 consultation, please complete the consultation response form (download by clicking on 'View documents') and send it to uknsc@dhsc.gov.uk, or simply email your comments/feedback to uknsc@dhsc.gov.uk.

Please do not click on the ‘Submit comments’ link because the online comments form is currently not operational and your comments will not be received via this route.
Please submit your feedback by 11.59pm on Tuesday 5 August 2025. Please be aware that all responses will be anonymised and published on our website after the final recommendation is made.

About MLD

Metachromatic leukodystrophy (MLD) is a rare inherited disorder that leads to a progressive loss of physical and, later, mental skills.

It is caused by an abnormal build-up of substances called sulphatides in the nerve cells, particularly in the white matter of the brain. These substances cause damage to myelin, the insulating material which is essential for normal transmission of messages between nerves.

There are 3 types of MLD based on the age symptoms appear: late-infantile MLD, juvenile MLD, and adult MLD. The incidence of MLD in the UK is estimated at approximately 1 in 40,000 births.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in June 2023.

Screening is not currently recommended for this condition.

A 2021 annual call submission proposed screening for MLD as part of the existing newborn blood spot screening programme. The submission suggested a 2-tier test strategy using routine dried blood spots and existing tandem mass spectrometry (MS/MS) technology followed by genetic confirmatory testing.

The UK NSC had not previously considered screening for MLD and commissioned an evidence map.

The evidence map concluded that the available evidence on screening test accuracy and cost-effectiveness, though limited, is promising and warrants further review. It also found that the volume and type of evidence related to the benefits and/or harms of treatments in presymptomatic patients with MLD is sufficient to justify a more in-depth review of the evidence.

Supporting documents from the 2023 review

MLD evidence map 2023
This document investigates whether a more detailed review can be conducted based on the available evidence.

Review cycle

Date previous review completed: 2023

Next review estimated to be completed: 2026 to 2027.

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

Organisations interested in Metachromatic leukodystrophy

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.

Cookies on UK National Screening Committee