The UK National Screening Committee (UK NSC) has opened a consultation on evidence relating to newborn screening for metachromatic leukodystrophy (MLD).
The committee, which had not previously considered screening for this condition, commissioned an evidence map in 2023, to evaluate the volume and type of existing evidence relating to newborn screening for MLD. The evidence map concluded that MLD should be added to the list of conditions the UK NSC regularly reviews, and that the topic should be looked at in more detail via an evidence summary.
Alex TLC will be responding to the consultation and will keep our MLD community members informed about how they can get involved.
MLD is a rare lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase A. This leads to the build-up of sulfatides in cells, primarily affecting the nervous system’s white matter. MLD presents with progressive neurological symptoms, including developmental regression, loss of motor functions, seizures and loss of senses. Read more about MLD.
Find out more about the consultation by visiting the UK NSC Blog.
