What is MLD?
MLD is an acronym for Metachromatic Leukodystrophy. MLD is a genetic disorder which at the moment has no cure. MLD is directly caused by a deficiency of the enzyme Arylsulfatase A and is usually characterized by enzyme activity which is less than 10% of human controls. Without this enzyme, sulfatides build up in many tissues of the body, eventually destroying the myelin sheath of the nervous system.
The myelin sheath is a fatty covering that protects nerve fibres. Without it, the nerves in the brain (central nervous system — CNS) and the peripheral nerves (peripheral nervous system – PNS) which control, among other things the muscles related to mobility, cease to function properly.