Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report

Khanzadeh, Shokoufeh; Babaei, Meisam; Imanpour, Parvin; Sadeghvand, Shahram

doi:10.22038/ijp.2021.57775.4532

Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report

Authors

Shokoufeh Khanzadeh ¹

meisam babaei ²

Parvin Imanpour ³

Shahram Sadeghvand ⁴

¹ Student Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran.

² Department of pediatrics,North Khorasan University of Medical Sciences,Bojnurd,Iran

³ Clinical Research Development Unit of Children Hospital Tabriz University of Medical Sciences, Tabriz, Iran

⁴ Department of Pediatrics, Tabriz University of Medical Sciences, Tabriz, Iran.

10.22038/ijp.2021.57775.4532

Abstract

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.

Keywords

Lysosomal storage disease

Multiple sulfatase deficiency

SUMF1 gene