International guidelines for the management and treatment of Morquio A syndrome

Am J Med Genet A. 2015 Jan;167A(1):11-25. doi: 10.1002/ajmg.a.36833. Epub 2014 Oct 24.


Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome.

Keywords: diagnosis; disease management; guidelines; mucopolysaccharidosis IV; symptom assessment.

Publication types

  • Review

MeSH terms

  • Humans
  • Internationality*
  • Mucopolysaccharidosis IV / complications
  • Mucopolysaccharidosis IV / diagnosis
  • Mucopolysaccharidosis IV / diagnostic imaging
  • Mucopolysaccharidosis IV / therapy*
  • Practice Guidelines as Topic*
  • Radiography