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)
A type of hereditary leukodystrophy caused by a deficiency of the enzyme cerebroside sulfatase, an enzyme that is essential for the degradation of sulfatide.
Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is the most common form of a family of genetic diseases known as the leukodystrophies, diseases which affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibres throughout the central and peripherial nervous systems .