Metachromatic Leukodystrophy: Pathophysiology, Symptoms, and Diagnosis in Medicine
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder, most commonly caused by mutations in the ARSA gene (encoding arylsulfatase A) and, less commonly, the PSAP gene (encoding saposin B, an ARSA activator protein), which impairs breakdown of sulfatides. Deficient enzyme activity causes sulfatide accumulation and formation of metachromatic granules within myelin-producing cells (Schwann cells and oligodendrocytes), driving demyelination of the central and peripheral nervous systems and producing a spectrum of progressive neurological disease classified by age of onset.
Metachromatic Leukodystrophy: Pathophysiology, Symptoms, and Diagnosis in Medicine
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder, most commonly caused by mutations in the ARSA gene (encoding arylsulfatase A) and, less commonly, the PSAP gen…