Morquio Syndrome

Morquio Syndrome

About Morquio Syndrome

Morquio's syndrome is an autosomal recessive mucopolysaccharide storage disease, usually inherited. It is a rare type of birth defect with serious consequences. When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms. These involve accumulation of keratan sulfate. The condition was first described, simultaneously and independently, in 1929, by Luis Morquio, a well-known Uruguayan physician who discovered it in Montevideo, Uruguay and James Frederick Brailsford, an English radiographer in Birmingham, England. They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in four siblings in a family of Swedish extraction and reported his observations in French.

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