In the course of normal life there is a continuous recycling process, this process requires a series of biochemical tools called enzymes. People with MLD lack a specific enzyme called arylsulphatase A which breaks down sulphatides, or the protein saposin B which works with arylsulphatase A to break down sulphatides. When arylsulphatase A and saposin B are unable to work together to break down sulphatides, they build up in cells within the nervous system, including the brain.
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease that progressively destroys nerve cells (neurons) in the brain and spinal cord.
Read on for information about the condition or see the latest updates and resources.
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Latest updates
Story
My daughter Eva
For Leukodystrophy Awareness Month we hear from Catrin, whose daughter has Metachromatic Leukodystrophy (MLD). My daughter Eva Rae...
18/09/2023
Story
My son Joey
For Leukodystrophy Awareness Month we hear from Katie, whose son has Metachromatic Leukodystrophy (MLD). Joey was born a happy healthy...
11/09/2023
News
Christine Lavery Memorial Fund opens a call for applications for summer vacation studentships 2023
The MPS Society are delighted to announce that we are launching the Christine Lavery Memorial Fund on 21 November, Christine’s birthday,...
21/11/2022
Latest resources
BBC documentary highlights the importance of Newborn Screening for early diagnosis
BBC documentary highlights the importance of Newborn Screening for early diagnosis.
White paper on improved outcomes for children with MLD following gene therapy
Recently published white paper on the improved outcomes for children with MLD following gene therapy based on findings from a parent survey.
Be prepared: emergency information for admission to hospital
Emergency information for admission to hospital that you should have to hand.