Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)

Fabiano de Oliveira Poswar; Johanna Henriques Nehm; Francyne Kubaski; Edina Poletto; Roberto Giugliani

doi:10.2147/TCRM.S351300

Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)

Ther Clin Risk Manag. 2022 Dec 22:18:1143-1155. doi: 10.2147/TCRM.S351300. eCollection 2022.

Authors

Fabiano de Oliveira Poswar^{1

2

3

4}, Johanna Henriques Nehm¹, Francyne Kubaski⁵, Edina Poletto⁶, Roberto Giugliani^{1

2

3

4

7

8

9}

Affiliations

¹ Clinical Research Group in Medical Genetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
² Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
³ Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil.
⁴ DR Brasil Research Group, HCPA, Porto Alegre, RS, Brazil.
⁵ Greenwood Genetic Center, Biochemical Genetics Laboratory, Greenwood, SC, USA.
⁶ Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
⁷ Department of Genetics, UFRGS, Porto Alegre, RS, Brazil.
⁸ DASA Genômica, São Paulo, SP, Brazil.
⁹ Casa dos Raros, Porto Alegre, RS, Brazil.

Abstract

Mucopolysaccharidosis VII (MPS VII, Sly syndrome) is an ultra-rare lysosomal disease caused by a deficiency of the enzyme β-glucuronidase (GUS). The diagnosis is suspected based on a range of symptoms that are common to many other MPS types, and it is confirmed through biochemical and molecular studies. Besides supportive treatment, current and emerging treatments include enzyme replacement therapy, hematopoietic stem cell transplantation, and gene therapy. This review summarizes the clinical manifestations, diagnosis, and emerging treatments for MPS VII.

Keywords: Sly syndrome; enzyme replacement therapy; gene therapy; hematopoietic stem cell transplantation; lysosomal disorders; mucopolysaccharidosis type VII.

Publication types

Review