Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is an inherited disease with a variable age of onset and is characterized by the progressive loss of motor skills and intellectual function. It involves defects in the enzyme called arylsulfatase A (ARSA), which breaks down molecules called sulfatides (a type of lipid found in cell membranes), particularly within the nervous system. Symptoms associated with MLD are due to the build-up of sulfatides that destroy myelin (the protective material that surrounds nerve cells). Metachromatic leukodystrophy is also known as arylsulfatase A deficiency. View testing options