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Appl Clin Genet. 2015 Oct 30;8:245-55. doi: 10.2147/TACG.S68650. eCollection 2015.

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Author information

1
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil ; Clinical Research Group on Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
2
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Clinical Research Group on Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Post-Graduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
3
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil ; Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil ; Department of Physiology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
4
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
5
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
6
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Post-Graduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
7
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil ; Clinical Research Group on Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Post-Graduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil ; Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil ; Post-Graduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Abstract

Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin sulfate, which accumulate in body tissues and organs of MPS VI patients. The storage of GAGs (especially dermatan sulfate) causes bone dysplasia, joint restriction, organomegaly, heart disease, and corneal clouding, among several other problems, and reduced life span. Despite the fact that most cases are severe, there is a spectrum of severity and some cases are so attenuated that diagnosis is made late in life. Although the analysis of urinary GAGs and/or the measurement of enzyme activity in dried blood spots are useful screening methods, the diagnosis is based in the demonstration of the enzyme deficiency in leucocytes or fibroblasts, and/or in the identification of pathogenic mutations in the ARSB gene. Specific treatment with enzyme replacement has been available since 2005. It is safe and effective, bringing measurable benefits and increased survival to patients. As several evidences indicate that early initiation of therapy may lead to a better outcome, newborn screening is being considered for this condition, and it is already in place in selected areas where the incidence of MPS VI is increased. However, as enzyme replacement therapy is not curative, associated therapies should be considered, and research on innovative therapies continues. The management of affected patients by a multidisciplinary team with experience in MPS diseases is highly recommended.

KEYWORDS:

Maroteaux–Lamy syndrome; arylsulfatase b; dermatan sulfate; enzyme replacement therapy; lysosomal storage diseases; mucopolysaccharidosis VI

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