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DeCS
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Descriptor English:
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Mucopolysaccharidosis I
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Descriptor Spanish:
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Mucopolisacaridosis I
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Descriptor Portuguese:
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Mucopolissacaridose I
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Synonyms English:
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Hurler's Syndrome
Pfaundler-Hurler Syndrome
Lipochondrodystrophy
Hurler-Scheie Syndrome
Mucopolysaccharidosis V
Scheie's Syndrome
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Tree Number:
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C16.320.565.202.715.640
C16.320.565.595.600.640
C17.300.550.575.640
C18.452.648.202.715.640
C18.452.648.595.600.640
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Definition English:
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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 syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. |
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See Related English:
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Iduronidase
Mucopolysaccharidosis II
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History Note English:
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1992; use LIPOCHONDRODYSTROPHY 1966-1991; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, use MUCOPOLYSACCHARIDOSIS 1975-1990; for MUCOPOLYSACCHARIDOSIS 1 use LIPOCHONDRODYSTROPHY 1976-1991; for HURLER'S DISEASE use LIPOCHONDRODYSTROPHY 1975-1991; for SCHEIE'S SYNDROME use MUCOPOLYSACCHARIDOSIS 5 1975-1991;
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Allowable Qualifiers English:
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Record Number:
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30379
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Unique Identifier:
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D008059
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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