Definitions for "Metachromatic leukodystrophy"
Inherited condition that causes blindness, mental retardation, rigidity and convulsions.
In this disease the lack of an enzyme, Arylsufatase-A (ASA), causes the accumulation of sulfatide deposits in the brain, which in turn leads to myelin breakdown.
A heritable metabolic disorder, usually of infancy, characterized by myelin loss and other abnormalities of the white matter of the nervous system, leading to progressive paralysis and mental retardation or dementia. (SMD)