Lysomal Storage Disorder

The Dwarf Pony

Mucopolysaccharidosis Type IVB

In mucopolysaccharidosis type IVB (MPS IVB, Morquio disease B, deficiency of beta-Galactosidase) predominantly the skeletal system is affected: Deformities of the spine, thorax and extremities result in disproportionate short stature with a final height of 130 - 150 cm. In general, the symptoms are milder than in MPS IVA. Instability of the cranio-cervical junction, that may lead to paraplegia, represents a severe complication. Further symptoms include corneal clouding and hearing impairment. Patients with MPS IVB often suffer also from cardiac involvement such as cardiomyopathy or valve insufficiency. The intelligence is normal.

Mucopolysaccharidosis Type IVB | SphinCS - Clinical Science for LSD

Synonym: Morquio B syndrome
Etiology: Deficiency of beta-D-Galactosidase
Gene: GLB1 Gene
Leading symptoms:

  • Skeletal abnormalities: Dysostosis multiplex, kyphosis, scoliosis, pectus carinatum, genu valgum. disproportionate dwarfism
  • Overly flexible joints
  • Corneal clouding
  • Hearing impairment
  • Cardiomyopathy, valve insufficiency

Diagnostics:

  • Measurement of the activity of beta-D-Galactosidase
  • Molecular genetic analysis of GLB1 Gene

Therapy: Only symptomatic

Current Studies

The "U.S. National Library of Medicine" provides a complete list of all international studies at www.clinicaltrials.gov. The comparable EU website is less comprehensive: www.clinicaltrialsregister.eu.

Self-help groups

Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/

At the moment we are not aware of any self-help groups.

Literature

At present we have no literature available.

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