Paul Orchard, MD, from the University of Minnesota Medical School, provides an overview of metachromatic leukodystrophy (MLD).
MLD is a rare lysosomal disorder due to a deficiency in arylsulfatase A (ARSA). It is characterized by the accumulation of sulfatides in cells that affects myelin producing cells. The net result is the progressive destruction of white matter throughout the nervous system. Affected children show progressive deterioration of cognitive ability, motor, and sensory functions. Eventually, they lose awareness of their surroundings and become unresponsive.
Without treatment, the disease is fatal after a few years. Currently, there is no FDA approved treatment but ex vivo autologous hematopoietic stem cell (HSC) gene therapy is available in Europe.
To learn more about MLD and other genetic disorders, visit checkrare.com/ congenital-and-genetic-conditions/
