What is metachromatic leukodystrophy (MLD)?
MLD is an autosomal recessively inherited progressive neurodegenerative disorder. It is caused by a deficiency of the enzyme arylsulfatase A that results in the accumulation of the glycolipid sulfatide in the central and peripheral nervous sytems. The age of onset of symptoms can vary from infancy through to adulthood. It is classified as a lysosomal storage disease. There are several excellent internet resources that provide descriptions of MLD.
