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.

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