 |  | Rudolph's Pediatrics Section 11. Inherited Disorders of Metabolism > Part 7. Organelle Related Disorders > Chapter 160. Mucopolysaccharidosis, Glycoproteinosis, and MucolipidosisJames Edmond Wraith | |
Topics Discussed: genetics and dysmorphology; mucolipidoses; mucopolysaccharidoses; pfaundler-hurler syndrome.
Sections: Mucopolysaccharidosis Type I , Mucopolysaccharidosis Type II , Mucopolysaccharidosis Type III , Mucopolysaccharidosis Type IV, Mucopolysaccharidosis Type VI , Mucopolysaccharidosis Type VII , Mucopolysaccharidosis Type IX , Mucolipidoses, Glycoproteinoses, and Related Disorders, References.
Excerpt:"The mucopolysaccharidoses (MPS) are a family of disorders that
are caused by inherited defects in the catabolism of sulfated components
of connective tissue known as glycosaminoglycans (GAGs).
In affected patients, one or more of three specific polymers—dermatan
sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS)—accumulate
within the cells, interfering with normal function, and are excreted
in excess in the urine. The main enzymatic defects in the catabolism
of the GAGs dermatan, heparan, and keratan sulfate are shown in eFigure 160.1...."
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