Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

ABSTRACT: Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity of these skeletal manifestations, the non-skeletal manifestations are frequently overlooked despite their significant contribution to disease progression and impact on quality of life. This review provides detailed information regarding the non-skeletal manifestations and suggests long-term assessment guidelines. The visual, auditory, digestive, cardiovascular, and respiratory systems are addressed and overall quality of life as measured by endurance and other functional abilit

SUBMITTER: Hendriksz CJ 

PROVIDER: S-EPMC3590399 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature