Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive
mutations in ARSA encoding arylsulfatase A. Low activity of arylsulfatase A results in the …

Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic
disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its …

Abstract Background Metachromatic Leukodystrophy (MLD) is a rare, fatal demyelinating
disorder with limited treatment options. Published outcomes after hematopoietic stem cell …

Importance Allogeneic hematopoietic stem cell transplantation (HSCT) has been the only
treatment option clinically available during the last 20 years for juvenile metachromatic …

Leukodystrophies (LDs) are rare, often devastating genetic disorders with neurologic
symptoms. There are currently no disease‐specific therapeutic approaches for these …

Inherited white matter disorders (IWMDs) are a phenotypically and genotypically
heterogeneous group of disorders affecting the central nervous system (CNS) with or without …

MLD is divided into 3 subtypes, based on the age of onset: lateinfantile (, 30 months),
juvenile (2.5-16 years), and adult (. 16 years). With early disease onset, progression is fast …

Background Long-term outcomes of hematopoietic stem cell transplantation (HSCT) in
children with juvenile metachromatic leukodystrophy (MLD) have been investigated …

Leukodystrophies are a heterogeneous, often progressive group of disorders manifesting a
wide range of symptoms and complications. Most of these disorders have historically had no …

Abstract Background Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive
lysosomal storage disorder caused by mutations in the ARSA gene. While interventional …