Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disease caused by mutations in the arylsulfatase A (ARSA) gene, resulting in the deficiency of the enzyme ARSA . A decrease in ARSA activity causes sulfatide accumulations in the central and peripheral nervous systems, leading to progressive dysmyelination, neurodegradation, and neuroinflammation. These neuronal conditions cause deterioration of cognitive and motor functions and death .
1 MLD is classified into three clinical forms – late-infantile (below 30 months), juvenile, which is subdivided into early juvenile (30 months to six years) and late juvenile (7-16 years), and adult MLD (above 17 years), based on the age at which the first symptoms of the disease appear. 1 This article summarizes the experimental treatments for MLD and a recent study that showed promising improvements in pediatric MLD patients . Treatment…
