Metachromatic leukodystrophy

Metachromatic leukodystrophy is an inherited lysosomal disorder caused by autosomal recessive mutations of ARSA gene or PASP gene, which result in the accumulation of sulfatides in the central and peripheral nervous system leading to demyelination.The disease is classified into a late-infantile, juvenile and adult onset type based on the age of onset, all characterized by a variety of neurological symptoms, which eventually lead to death if untreated.There is no curative treatment for all types and stages.This review discusses pathogenesis, clinical manifestations, diagnostic process and efficacy of current and possible future therapies such as enzyme replacement therapy, hematopoietic stem cell transplantation and gene therapy.A longer follow up period for the above therapies are needed to come to a general conclusion and improve treatment options for metachromatic leukodystrophy. Key words: Metachromatic leukodystrophy; ARSA gene; Lysosomal disorder