Category: Genetic Disorders / Lysosomal Storage Disorder, Leukodystrophy
Metachromatic Leukodystrophy (MLD) is a rare, inherited metabolic disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA), leading to the accumulation of sulfatides and progressive demyelination of the nervous system.
Approximately 1 in 40,000 to 1 in 160,000 births (Source: NORD)
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