Definition for Morquio Syndrome

Morquio syndrome (referred to as mucopolysaccharidosis IV or Morquio) is a mucopolysaccharide storage disease (see also Lysosomal Storage Disorder). more

Morquio syndrome (referred to as mucopolysaccharidosis IV or Morquio) is a mucopolysaccharide storage disease (see also Lysosomal Storage Disorder). When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms. Type A is a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase. Type B is the deficiency of the enzyme beta-galactosidase. The disease is caused by an abnormal accumulation of mucopolysaccharides - in this case, keratan sulfate - in the body. The symptoms vary from patient to patient, and may include hearing loss, cataracts, skeletal dysplasia, spinal instability, and minor respiratory issues, among others. The condition was first described, simultaneously and independently, in 1929, by Luis Morquio in Montevideo, Uruguay, and by James Frederick Brailsford 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 4 siblings in a family of Swedish extraction and, to further compound the international melange, reported his observations in French. less