Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

• Main Authors: Manshadi, M.D., Kamalidehghan, B., Aryani, O., Khalili, E., Dadgar, S., Tondar, M., Ahmadipour, F., Meng, G.Y., Houshmand, M.
• Format: Article
• Published: Dove Medical Press 2017
• Subjects: R Medicine
• Online Access: http://eprints.um.edu.my/19102/; http://dx.doi.org/10.2147/TCRM.S119967

Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the...