Lucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, Stefanie Beck-Woedl, Caroline Bergner, Geneviève Bernard, Annette Bley, Audrey Boyer, Valeria Calbi, Hanka Dekker, Florian Eichler, Erik Eklund, Francesca Fumagalli, Francesco Gavazzi, Sabine W Grønborg, Peter van Hasselt, Mirjam Langeveld, Caroline Lindemans, Fanny Mochel, Andreas Oberg, Dipak Ram, Elise Saunier-Vivar, Ludger Schöls, Michael Scholz, Caroline Sevin, Ayelet Zerem, Nicole I Wolf, Samuel Groeschel
INTRODUCTION: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide accumulation. As a result affected individuals exhibit progressive neurodegeneration. Treatments such as hematopoietic stem cell transplantation (HSCT) and gene therapy are effective when administered pre-symptomatically. Newborn screening (NBS) for MLD has recently been shown to be technically feasible and is indicated because of available treatment options...
March 9, 2024: European Journal of Paediatric Neurology: EJPN