Lysomale Speichererkankung

The Dwarf Pony

Mucopolysaccharidosis Type VI

Patients with a mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy) have many clinical signs similar to those of mucopolysaccharidosis type I such as disproportionate short stature, coarse facial features and hepatosplenomegaly, but intellectual disability is absent. Rapid and slow progressive forms are known. Stenosis of the cranio-cervical junction, leading to compression of the spinal cord, and vision impairment due to corneal clouding and glaucoma represent common complications.

Mucopolysaccharidosis Type VI | SphinCS - Clinical Science for LSD

Synonym: Maroteaux-Lamy syndrome
Etiology: Deficiency of arylsulfatase B
Gene: ARSB Gene
Mode of inheritance: Autosomal recessive
Leading symptoms:

  • Facial dysmorphia
  • Dysproportioned dwarfism
  • Joint contractures
  • Hepatosplenomegaly
  • Umbilical/ unguinal hernia
  • Corneal clouding
  • Hearing impairment
  • Optic nerve atrophy
  • Heart valve insufficiency/ stenosis
  • Hydrocephalus


  • Measurement of the activity of arylsulfatase B in leucocytes
  • Molecular genetic analysis of the ARSB Gene

Galsulfase (Naglazyme®)

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