Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive lysosomal storage disorder determined by mutations in the arylsulfatase B gene (ARSB). Pathogenic mutations of this gene result in reduced or absent activity of the enzyme arylsulfatase B. We present 5 adult patients (aged 20 to 33 years) with MPS VI that was diagnosed at the age of 7 to 30 years. Clinical manifestations included low stature (132 to 153 cm), facial dysmorphism (in 5), dysostosis multiplex (in 5), upper respiratory tract stenosis (in 4), cardiac valve disease (in 5), corneal clouding (in 5) and blindness (in 1), cervical cord compression (in 4).
Mucopolysaccharidosis type VI, enzymereplacement therapy, galsulfase.