Structured Summary
Abstract
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.
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Synonyms
33 entry terms
- Lipochondrodystrophy
- Mucopolysaccharidosis 1
- Mucopolysaccharidosis Type I
- Lipochondrodystrophies
- Gargoylism
- Gargoylism, Hurler Syndrome
- Hurler Disease
- Hurler Syndrome
- Hurler's Disease
- Hurler's Syndrome
- Hurler-Scheie Syndrome
- Mucopolysaccharidosis 5
- Mucopolysaccharidosis I-S
- Mucopolysaccharidosis Type Ih
- Mucopolysaccharidosis Type Ih S
- Mucopolysaccharidosis Type Is
- Mucopolysaccharidosis V
- Pfaundler-Hurler Syndrome
- Scheie Syndrome
- Scheie's Syndrome
- alpha-L-Iduronidase Deficiency
- Disease, Hurler's
- Gargoylisms
- Hurler Scheie Syndrome
- Hurler Syndrome Gargoylism
- Mucopolysaccharidosis I S
- Mucopolysaccharidosis Type Ihs
- Syndrome, Hurler's
- Syndrome, Scheie's
- Type Ih, Mucopolysaccharidosis
- Type Ihs, Mucopolysaccharidosis
- alpha L Iduronidase Deficiency
- alpha-L-Iduronidase Deficiencies
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Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
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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References
- National Library of Medicine. Mucopolysaccharidosis I. Medical Subject Headings (MeSH). 2026. Unique ID D008059. http://id.nlm.nih.gov/mesh/2026/D008059
- Mucopolysaccharidosis I. In: Wikipedia. https://en.wikipedia.org/wiki/Mucopolysaccharidosis_type_I
- Mucopolysaccharidosis I. In: Wikidata. https://www.wikidata.org/wiki/Q1906054