Mucopolysaccharidosis type VI(Maroteaux-Lamy syndrome)

Mucopolysaccharidosis type 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 arylsulphatase B and accumulation of glycosaminoglycan (GAG) dermatan sulfate in different tissues and organs. Signs and symptoms of MPS VI (bone dysplasia, typical facial features, joints restriction, hepatosplenomegaly, valve disease, obstructive and restrictive lung failure, corneal opacification etc) frequently develop at young age and deteriorate rapidly though slow progression of disease is also possible in a proportion of patients and may lead to a delayed diagnosis. Although the analysis of urinary GAGs is a useful method, the diagnosis is based оn the demonstration of the enzyme deficiency in leucocytes or fibroblasts, and/or оn the identification of pathogenic mutations in the ARSB gene. Enzyme replacement treatment with Galsulfase is safe and effective in MPS VI. It improves growth, exercise tolerance and lung function. Early initiation of therapy may lead to a better outcome.

Key words

Mucopolysaccharidosis type VI, Enzyme replacement.