Abstract

MELEAN GUMIEL, Germán; AILLON LOPEZ, Valeria  and  TABOADA LOPEZ, Gonzalo. MUCHOPOLYSACCHARIDOSIS VI: REPORT OF THREE CASES AND LITERATURE REVIEW. Rev. Méd. La Paz [online]. 2019, vol.25, n.2, pp.58-64. ISSN 1726-8958.

The Maroteaux-Lamy syndrome is one of the less common muchopolysaccharidoses subtypes with an approximate incidence of 0.36 to 1.30 per 100,000 live births. MPSVI is caused by the mutation of the ARSB gene, producing the arylsulfatase B enzyme deficiency, that causes cell accumulation of the dermatan sulfate. MPSVI patients progressively develop multiorganic involvement. In this review, we report three unrelated bolivian cases with MPS VI. Additionally we review two series of cases of 38 MPSVI patients reported in literature.

Keywords : Muchopolysaccharidoses; Maroteaux-Lamy-ARSB; arylsulfatase; dermatan sulfate; founding effect.

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