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| Morquio disease ： ウィキペディア英語版 |
Morquio syndrome
Morquio syndrome (referred to as mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or Morquio) is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited. It is a rare type of birth defect with serious consequences. In the US, the incidence rate for Morquio is estimated at between 1 in 200,000 and 1 in 300,000 live births.〔
When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms. These involve accumulation of keratan sulfate.
== History ==
The condition was first described, simultaneously and independently, in 1929, by Luis Morquio (1867–1935), a prominent Uruguayan physician who discovered it in Montevideo, and James Frederick Brailsford (1888–1961), 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.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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