Metachromatic Leukodystrophy

Metachromatic Leukodystrophy [ARSA]: A lysosomal storage disease in which the deficiency of the hydrolase aryl sulfatase A leads to a progressive degenerative disease of the nervous system. The deterioration of the nervous system leads first to deficits in motor function and later to deficits in mental abilities. In most cases the affected child falls into a vegetative state by the age of 3-5 and dies shortly afterward.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 46