Morquio syndrome

In Morquio syndrome, the specific GAG which builds up in the body is called keratan sulfate.

Morquio syndrome causes progressive skeletal changes to the ribs and chest, which may lead to neurological complications such as nerve compression.

Skeletal abnormalities include a bell-shaped chest, widely spaced teeth with thin enamel, a flattening or curvature of the spine, shortened long bones, and dysplasia of the hips, knees, ankles, and wrists.

The incompletely broken down GAGs remain stored in cells in the body, causing progressive damage.

[citation needed] The treatment for Morquio syndrome consists of prenatal identification and of enzyme replacement therapy.

[8] One study found that the mean life expectancy for patients in the United Kingdom was 25.30, with a standard deviation of 17.43 years.

[9] The condition was first described, simultaneously and independently, in 1929, by Luis Morquio (1867–1935),[10] a prominent Uruguayan physician who discovered it in Montevideo, and James Frederick Brailsford (1888–1961), an English radiologist in Birmingham, England.

[11][12] They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate.

Corneal clouding in a 30-year-old male with MPS VI. Morquio syndrome and other MPS disorders may also present with corneal clouding.