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Hurler's syndrome

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Hur·ler's syndrome (hûrlrz)
n.
A hereditary defect in mucopolysaccharide metabolism characterized by the excretion of dermatan sulfate and heparitin sulfate in the urine, abnormal development of skeletal cartilage and bone, corneal clouding, enlarged liver and spleen, mental retardation and sometimes deafness, and a coarsened facial surface with flattened nose and enlarged lips. Also called dysostosis multiplex, Hurler's disease, lipochondrodystrophy, type I mucopolysaccharidosis.

Hurler's syndrome
mucopolysaccharidosis I.

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Hurler's syndrome is a rare hereditary condition caused by the lack of an enzyme needed to regulate basic cell functions.
LMA has been used in patients with various pediatric syndromes, including craniodiaphyseal dysplasia, the mucopolysaccharidoses, Freeman-Sheldon syndrome, Hurler's syndrome, and Cockayne's syndrome.
 
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