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Friday, December 25th, 2009

Toddler struggles to fight rare genetic disease

October 29, 2008 by Grace Ibay  
Filed under Health

Toddler struggles to fight rare genetic disease

I first learned of this rare recessive disorder mucopolysaccharidosis VI, or MPS VI from the story of 3-year old boy Trey Lane, who suffers from it.
Mucopolysaccharidosis VI, or MPS VI is a rare unpredictable disorder resulting from a deficiency of arylsulfatase B, thus preventing the degradation of polysaccharides. The excessive amounts of polysaccharides in the affected person’s body compresses soft tissues and bones and hinders proper growth of the bones. Most affected individuals have short stature, deformed facial structures, stiff joints, and corneal clouding.
Featured in the Arizona Central, Trey’s story captured media attention when his doctors told him …read more


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