Metachromatic leukodystrophy – causes, symptoms, diagnosis, treatment, pathology

Metachromatic leukodystrophy – causes, symptoms, diagnosis, treatment, pathology

Metachromatic leukodystrophy, or MLD, is a rare lysosomal storage disorder that results from mutations in the ARSA gene, which codes for arylsulfatase A – an enzyme that normally breaks down a fat called sulfatide. Without this enzyme, sulfatide accumulates in neurons and myelin-producing cells like Schwann cells and oligodendrocytes, resulting in their degeneration. MLD is

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