alpha-Mannosidosis [alfa-mannosidóza]
topical
5
- 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
Persistent link
https://www.medvik.cz/link/D008363
Definition
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 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 0
- DI
- diagnosis 3
- DG
- diagnostic imaging 1
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 1
- GE
- genetics 3
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 2
- PP
- physiopathology 1
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 1
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0
...
Occurrences in Medvik records
C
Diseases