Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report
نویسندگان
1 Department of Pediatrics, Tabriz University of Medical Sciences, Tabriz, Iran.
2 Student Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran.
3 Department of pediatrics,North Khorasan University of Medical Sciences,Bojnurd,Iran
4 Clinical Research Development Unit of Children Hospital Tabriz University of Medical Sciences, Tabriz, Iran
doi
10.22038/ijp.2021.57775.4532چکیده
Multiple sulfatase deficiency (MSD) is a very rare Lysosomal Storage Disease (LSD) caused by mutations in the SUMF1 gene. So far, about 143 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.
