| 单词 | Mucopolysaccharidosis 5 |
| 释义 | Mucopolysaccharidosis 5《英文msh词典》Mucopolysaccharidosis 5 [入口词] Mucopolysaccharidosis 5 [主题词] Mucopolysaccharidosis I [英文释义] Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome,Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include dwarfism,hepatosplenomegaly,gargoyle-like facies,corneal clouding,cardiac complications,and noisy breathing. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called gargoylism because of the coarsness of the facial features of affected individuals. |
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