Metachromatic Leukodystrophy (MLD) – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2023 To 2033

Metachromatic leukodystrophy (MLD), or globoid cell leukodystrophy, is a genetic disorder characterized by the accumulation of lipids and other storage materials in cells within the central nervous system's white matter and peripheral nerves. The primary cause of metachromatic leukodystrophy is the deficiency of arylsulfatase A activity, often resulting from mutations in the arylsulfatase A gene (ARSA gene) located on chromosome 22q13.3-qter. Notably, two alleles, A and I, contribute to roughly half of the cases and lead to distinct clinical manifestations of the disease. In some instances, the sphingolipid activator protein SAP-B (saposin B) deficiency causes this condition due to mutations in the prosaposin gene (PSAP gene). MLD, classified as a lysosomal storage disease, arises from the incapacity to break down sulfated glycolipids, particularly galactosyl-3-sulfate ceramides, due to insufficient lysosomal enzyme activity, primarily arylsulfatase A. This enzyme deficiency prima...