Metachromatic leukodystrophy

Metachromatic leukodystrophy, abbreviated MLD, is a lysosomal storage disease. It is commonly listed in the family of leukodystrophies, which affect the growth or development of myelin, the fatty covering that insulates nerve fibers throughout the central and peripheral nervous systems, and it is also listed among the sphingolipidoses because it affects the metabolism of sphingolipids. The disease involves the accumulation of cerebroside sulfate. Like most enzyme deficiencies, it has an autosomal recessive inheritance pattern, so a person is affected when both copies of the relevant gene are altered.