Metachromatic Leukodystrophy

  • Lysosomal Disease Network (LDN)

    Lysosomal disorders (LD) are a group of approximately 70 inherited metabolic conditions resulting from defects in lysosomal function; usually deficiency of a single enzyme required for the metabolism of lipids, glycoproteins, or mucopolysaccharides. Collectively, LD are not especially rare; estimates suggest that approximately 1 in 5,000 newborns will be affected with one identified LD

  • Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)

    Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the lipid membrane that insulates axons in the central nervous system. Despite advances in the diagnosis of these disorders, they remain widely under-recognized, with unmet gaps in clinical care and curative therapeutics. The Global Leukodystrophy