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Hurler syndrome

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Hurler syndrome
Hurler's disease, mucopolysaccharidosis IH Metabolic disease An AR condition caused by a defect in lysosomal α-L-iduronidase; Sx develop by end of first yr Clinical Gargoylism–coarse thick features, Breshnikov–prominent dark–eyebrows, cloudy corneas, progressive stiffness, mental retardation, heart and heart valve defects; death in early teens due to heart disease. See GL.


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The lysosomes in the cells of children with Hurler syndrome do not have a vital enzyme called IDUA (/a-/L-idunronidase), which causes their cells to accumulate too much of a class of biochemical known as mucopolysaccharides, in this instance dermatan sulfate and heparin sulfate.
He was diagnosed with MPS 1 - Hurler Syndrome at a few months old and doctors said it was terminal without a bone marrow transplant.
In January 2003, Jayne and Anthony were told Thomas had a life-threatening condition called Hurler syndrome.
 
 
 
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