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

Abstract

Fabiano de Oliveira Poswar,1– 4 Johanna Henriques Nehm,1 Francyne Kubaski,5 Edina Poletto,6 Roberto Giugliani1– 4,7– 9 1Clinical Research Group in Medical Genetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; 2Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil; 3Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil; 4DR Brasil Research Group, HCPA, Porto Alegre, RS, Brazil; 5Greenwood Genetic Center, Biochemical Genetics Laboratory, Greenwood, SC, USA; 6Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA; 7Department of Genetics, UFRGS, Porto Alegre, RS, Brazil; 8DASA Genômica, São Paulo, SP, Brazil; 9Casa dos Raros, Porto Alegre, RS, BrazilCorrespondence: Roberto Giugliani, Medical Genetics Service- HCPA / Dep Genet UFRGS, 2350 Ramiro Barcelos, Porto Alegre, RS, 90035-903, Brazil, Tel [phone], Email [email protected]: 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: lysosomal disorders, mucopolysaccharidosis type VII, Sly syndrome, enzyme replacement therapy, hematopoietic stem cell transplantation, gene therapy

Keywords

• lysosomal disorders
• mucopolysaccharidosis type vii
• sly syndrome
• enzyme replacement therapy
• hematopoietic stem cell transplantation
• gene therapy.