Scott_1984
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Re:Morquios Syndrome - 2007/10/18 03:47
Welcome to Ablehere 
I've add some more information for other users on: Morquios Syndrome.
Morquio syndrome (referred to as mucopolysaccharidosis IV or Morquio) is a mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited. It is a relatively rare dwarfism with serious consequences.
When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms.
Types:
Two forms are recognized, type A and type B.
Type A is a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase.
Type B is the deficiency of the enzyme beta-galactosidase.
Presentation:
The disease is caused by an abnormal accumulation of mucopolysaccharides - in this case, keratan sulfate - in the body. Keratan sulfate is excreted in urine.
The symptoms vary from patient to patient, and may include hearing loss, cataracts, skeletal dysplasia, spinal instability, and minor respiratory issues, among others.
History:
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 reported his observations in French.
http://en.wikipedia.org/wiki/Morquio_syndrome
http://www.mpssociety.org
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