Metachromatic Leukodystrophy

Metachromatic Leukodystrophy (MLD) is one of 45 diseases within the family of Lysosomal Storage Diseases.

MLD is caused by an increased concentration of sulphatide in cells and an ensuing breakdown of "myelin", a substance that protects the nerves in the brain and the rest of the body. The disease occurs due to a lack of the enzyme Arylsulfatase A (ASA), which causes irreparable neurological damage and death. There are no clear benefits from any other present therapy for children with Late-infantile MLD who are often diagnosed at the age of two years. Once symptoms become evident they have rapid neurological deterioration, become bedridden until they die within three to four years. The disease is rare and therefore unknown to the general public. The disease can in some ways be compared to Multiple Sclerosis, which also exists in several forms and can have a very quick and lethal progression.

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