Conditions / Genetic

mucopolysaccharidosis VI

info · Genetic

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.

Signs and symptoms

  • Corneal opacity
  • Short stature
  • Flexion contracture
  • Coarse facial features
  • Split hand
  • Mitral regurgitation
  • Hirsutism
  • Umbilical hernia
  • Thickened skin
  • Genu valgum

Medications that may treat it

galsulfase

Also known as: MPS VI - Maroteaux-Lamy syndrome; Maroteaux - Lamy syndrome; Maroteaux-Lamy syndrome; arylsulfatase B deficiency; deficiency of N-acetylgalactosamine-4-sulfatase