Natural Disease History and Characterization of SUMF۱ Molecular Defects in Multiple Sulfatase Deficiency: a Case Report

Multiple sulfatase deficiency (MSD) is a very rare Lysosomal Storage Disease (LSD) caused by mutations in the SUMF۱ gene. So far, about ۱۴۳ patients with MSD have been reported in previous studies, although this figure is likely an underestimation due to under-reporting and under-recognition. The present report shows the genetic and clinical aspects of a patient with MSD in comparison to the previously reported patients.