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Mucopolissacaridose I
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Definição:
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase () and characterized by progressive physical deterioration with urinary excretion of and . 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 , hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome () and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.
Sinônimos:
Lipocondrodistrofia /
Mucopolissaridose V /
SÃndrome de Scheie /
SÃndrome de Hurler-Scheie /
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DOENÇAS
Doenças Nutricionais e Metabólicas