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.
Synonym: Maroteaux-Lamy syndrome
Etiology: Deficiency of arylsulfatase B
Gene: ARSB Gene
Mode of inheritance: Autosomal recessive
Leading symptoms:
- Facial dysmorphia
- Disproportionate dwarfism
- Joint contractures
- Hepatosplenomegaly
- Umbilical/ unguinal hernia
- Corneal clouding
- Hearing impairment
- Optic nerve atrophy
- Heart valve insufficiency/ stenosis
- Hydrocephalus
Diagnostics:
- Measurement of the activity of arylsulfatase B in leucocytes
- Molecular genetic analysis of the ARSB Gene
Therapy:
Galsulfase (Naglazyme®)
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