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Browse result for Metachromatic leukodystrophy

※ introduction

    Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. 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. MLD involves cerebroside sulfate accumulation. Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern.

Reference
Wiki: Metachromatic leukodystrophy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04228P15289410
ARSA
Arylsulfatase A [Cleaved into: Arylsulfatase A component B; Arylsulfatase A component C]
Homo sapiens