Mucopolysaccharidosis I
A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders.
Year introduced: 1992
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Subheadings:
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:
- Lipochondrodystrophy
- Lipochondrodystrophies
- Mucopolysaccharidosis 1
- Mucopolysaccharidosis Type I
- Scheie Syndrome
- Mucopolysaccharidosis 5
- Mucopolysaccharidosis I-S
- Mucopolysaccharidosis I S
- Mucopolysaccharidosis Type Is
- Mucopolysaccharidosis V
- Scheie's Syndrome
- Syndrome, Scheie's
- Hurler-Scheie Syndrome
- Hurler Scheie Syndrome
- Mucopolysaccharidosis Type Ih S
- Hurler Syndrome
- Gargoylism
- Gargoylisms
- Gargoylism, Hurler Syndrome
- Hurler Syndrome Gargoylism
- Hurler Disease
- Hurler's Disease
- Disease, Hurler's
- Hurler's Syndrome
- Syndrome, Hurler's
- Mucopolysaccharidosis Type Ih
- Mucopolysaccharidosis Type Ihs
- Type Ih, Mucopolysaccharidosis
- Type Ihs, Mucopolysaccharidosis
- Pfaundler-Hurler Syndrome
- alpha-L-Iduronidase Deficiency
- alpha-L-Iduronidase Deficiencies
- alpha L Iduronidase Deficiency
See Also: