Mucopolysaccharidosis I
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.
Year introduced: 1992
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Tree Number(s): 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
MeSH Unique ID: D008059
Entry Terms:
- Mucopolysaccharidosis Is
- Lipochondrodystrophy
- Lipochondrodystrophies
- Mucopolysaccharidosis 1
- Mucopolysaccharidosis Type I
- Scheie Syndrome
- Mucopolysaccharidosis V
- Scheie's Syndrome
- Syndrome, Scheie's
- Mucopolysaccharidosis 5
- Mucopolysaccharidosis I-S
- Mucopolysaccharidosis I S
- Mucopolysaccharidosis Type Is
- Hurler-Scheie Syndrome
- Hurler Scheie Syndrome
- Mucopolysaccharidosis Type Ih S
- Hurler Syndrome
- Hurler's Disease
- Disease, Hurler's
- Hurler's Syndrome
- Syndrome, Hurler's
- Pfaundler-Hurler Syndrome
- Gargoylism, Hurler Syndrome
- Hurler Syndrome Gargoylism
- Mucopolysaccharidosis Type Ih
- Mucopolysaccharidosis Type Ihs
- Type Ih, Mucopolysaccharidosis
- Type Ihs, Mucopolysaccharidosis
- Hurler Disease
- Gargoylism
- Gargoylisms
- alpha-L-Iduronidase Deficiency
- alpha-L-Iduronidase Deficiencies
- alpha L Iduronidase Deficiency
See Also: