S. S.

Metachromatic Leukodystrophy: A Narrative Review of Pathophysiology, Diagnosis, and Therapeutic Advances

Leukodystrophies are a heterogeneous group of rare genetic disorders characterized by progressive myelin dysfunction, of which metachromatic leukodystrophy (MLD) — caused by biallelic pathogenic variants in ARSA leading to arylsulfatase A deficiency and lysosomal sulfatide accumulation — is among the most severe and be...