alpha-Mannosidosis [alfa-mannosidóza]
- Terms
-
deficit alfa-mannosidázy
mannosidóza alfa B lyzozomální
-
alpha Mannosidase B Deficiency
Alpha-D-Mannosidosis
Alpha-Mannosidase B Deficiency
alpha-Mannosidase Deficiency
Alpha-Mannosidosis, Type I
Lysosomal Alpha B Mannosidosis
Lysosomal alpha-D-Mannosidase Deficiency
Mannosidosis, alpha B Lysosomal
Mannosidosis, alpha B, Lysosomal
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
- DUI
- D008363 MeSH Browser
- CUI
- M0013006
- Previous indexing
- Carbohydrate Metabolism, Inborn Errors (1966-1984); Mannose (1966-1984); Mannosidases (1975-1984); Mannosidosis (1985-2003); Metabolism, Inborn Errors (1966-1984)
- History note
- 2004(1985)
- Public note
- 2004; see MANNOSIDOSIS 1984-2003
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis 3
- DG
- diagnostic imaging 1
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology 1
- GE
- genetics 3
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 2
- PP
- physiopathology 1
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 1
- UR
- urine
- VE
- veterinary
- VI
- virology
Alpha-mannosidosis type 1 Disease MeSH Browser
Alpha-mannosidosis, type 2 Disease MeSH Browser
alpha-Mannosidosis, Type II Disease MeSH Browser