Metachromatic Leukodystrophy (MLD) – Between 1 in 40,000 and 1 in 160,000 People Affected

What is Metachromatic Leukodystrophy?: Metachromatic leukodystrophy (MLD) is a rare, inherited lysosomal storage disorder caused by ARSA or PSAP gene mutations that lead to toxic accumulation of sulfatides. This accumulation destroys the myelin sheath in the central and peripheral nervous systems, resulting in progressive cognitive and motor decline. Appearing in late-infantile, juvenile, or adult forms, MLD causes severe symptoms like… Read.