Francesca Fumagalli, PhD, Researcher of Cardiovascular Medicine at Istituto di Ricerche Farmacologiche Mario Negri (IRCCS), gives an overview of metachromatic leukodystrophy (MLD).
MLD is a lysosomal storage disorder caused by arylsulfatase A (ARSA) deficiency. It is characterized by the accumulation of sulfatides in cells which largely affects myelin producing cells. This leads to the progressive destruction of white matter throughout the nervous system.
As Dr. Fumagalli explains, affected individuals 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. Fortunately, recent research on lentiviral hematopoietic stem cell gene therapy as a treatment for MLD has been positive.
To learn more about MLD and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/