DISEASES

Disease-gene associations mined from literature

Human genes for metachromatic leukodystrophy

Metachromatic leukodystrophy [DOID:10581]

Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. It involves sulfatide accumulation.

Synonyms:  metachromatic leukodystrophy,  DOID:10581,  Arylsulfatase A deficiency (disorder),  Metachromatic leucodystrophy (disorder),  Metachromatic leukodystrophy (disorder) [Ambiguous] ...

Linkouts:  OMIM #1 #2