Mucopolysaccharidosis type VI in adult patients
Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive lysosomal storage disorder determined by muta- tions in the arylsulfatase B gene (ARSB). Pathogenic muta- tions of this gene result in reduced or absent activity of the78 КЛИНИЧЕСКАЯ ФАРМАКОЛОГИЯ И ТЕРАПИЯ, 2017, 26 (1)КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯenzyme arylsulfatase B. We present 5 adult patients (aged 20to 33 years) with MPS VI that was diagnosed at the age of 7 to30 years. Clinical manifestations included low stature (132 to153 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 cordcompression (in 4).