Mucopolysaccharidosis I [mukopolysacharidóza I]
- Terms
-
deficit alfa-L-iduronidasy
deficit alfa-L-iduronidázy
deficit α-L-iduronidasy
gargoylismus
lipochondrodystrofie
mukopolysacharidóza I-S
mukopolysacharidóza I. typu
mukopolysacharidóza IH
mukopolysacharidóza typu I
mukopolysacharidóza V
mukopolysacharidóza V. typu
Scheieův syndrom
syndrom Hurlerové
syndrom Hurlerové-Scheieův
syndrom Scheieův
-
alpha-L-Iduronidase Deficiency
Gargoylism
Gargoylism, Hurler Syndrome
Hurler Disease
Hurler Syndrome
Hurler-Scheie Syndrome
Hurler's Disease
Hurler's Syndrome
Lipochondrodystrophy
Mucopolysaccharidosis 1
Mucopolysaccharidosis 5
Mucopolysaccharidosis I-S
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type Ih
Mucopolysaccharidosis Type Ih S
Mucopolysaccharidosis Type Is
Mucopolysaccharidosis V
Pfaundler-Hurler Syndrome
Scheie Syndrome
Scheie's Syndrome
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.
- DUI
- D008059 MeSH Browser
- CUI
- M0012558
- 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;
- Public note
- 1992; see LIPOCHONDRODYSTROPHY 1966-91; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, see MUCOPOLYSACCHARIDOSIS 1975-1990; for MUCOPOLYSACCHARIDOSIS 1 see LIPOCHONDRODYSTROPHY 1976-1991; for HURLER'S DISEASE see LIPOCHONDRODYSTROPHY 1975-1991; for SCHEIE'S SYNDROME see MUCOPOLYSACCHARIDOSIS 5 1975-1991
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 4
- DI
- diagnosis 16
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 2
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 1
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 2
- GE
- genetics 5
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 3
- PP
- physiopathology 2
- PC
- prevention & control 0
- PX
- psychology 1
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 13
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0