Mucopolysaccharidosis VI [mukopolysacharidóza VI]

topical
8
Terms

diastrofická dysplazie
diastrofický dwarfismus
Lamyův-Maroteauxův syndrom
Maroteauxův-Lamyho syndrom
mukopolysacharidóza VI. typu

 

ARSB Deficiency
Arylsulfatase B Deficiency
Maroteaux-Lamy Syndrome
Mucopolysaccharidosis 6
Mucopolysaccharidosis Type 6
Mucopolysaccharidosis Type VI
N-Acetylgalactosamine-4-Sulfatase Deficiency
Polydystrophic Dwarfism

Persistent link   https://www.medvik.cz/link/D009087
Definition

Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).

DUI
D009087 MeSH Browser
CUI
M0014176
Previous indexing
Mucopolysaccharides/metabolism (1966-1974); Mucopolysaccharidosis (1974); Carbohydrate Metabolism, Inborn Errors (1966-1974); Chondroitin (1966-1974)
History note
92; was MUCOPOLYSACCHARIDOSIS 6 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90
Online note
use MUCOPOLYSACCHARIDOSIS VI to search MUCOPOLYSACCHARIDOSIS 6 1975-91
Public note
92; was MUCOPOLYSACCHARIDOSIS 6 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90

C Diseases
C16.320.565.202.715 Mucopolysaccharidoses 81
C16.320.565.202.715.640 Mucopolysaccharidosis I 29
C16.320.565.202.715.645 Mucopolysaccharidosis II 25
C16.320.565.202.715.650 Mucopolysaccharidosis III 10
C16.320.565.202.715.655 Mucopolysaccharidosis IV 13
C16.320.565.202.715.670 Mucopolysaccharidosis VI 8
C16.320.565.202.715.675 Mucopolysaccharidosis VII 1
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.595.600 Mucopolysaccharidoses 81
C16.320.565.595.600.640 Mucopolysaccharidosis I 29
C16.320.565.595.600.645 Mucopolysaccharidosis II 25
C16.320.565.595.600.650 Mucopolysaccharidosis III 10
C16.320.565.595.600.655 Mucopolysaccharidosis IV 13
C16.320.565.595.600.670 Mucopolysaccharidosis VI 8
C16.320.565.595.600.675 Mucopolysaccharidosis VII 1
C17.300.550 Mucinoses 17
C17.300.550.575 Mucopolysaccharidoses 81
C17.300.550.575.640 Mucopolysaccharidosis I 29
C17.300.550.575.645 Mucopolysaccharidosis II 25
C17.300.550.575.650 Mucopolysaccharidosis III 10
C17.300.550.575.655 Mucopolysaccharidosis IV 13
C17.300.550.575.670 Mucopolysaccharidosis VI 8
C17.300.550.575.675 Mucopolysaccharidosis VII 1
C18.452 Metabolic Diseases 1 196
C18.452.648.202.715 Mucopolysaccharidoses 81
C18.452.648.202.715.640 Mucopolysaccharidosis I 29
C18.452.648.202.715.645 Mucopolysaccharidosis II 25
C18.452.648.202.715.650 Mucopolysaccharidosis III 10
C18.452.648.202.715.655 Mucopolysaccharidosis IV 13
C18.452.648.202.715.670 Mucopolysaccharidosis VI 8
C18.452.648.202.715.675 Mucopolysaccharidosis VII 1
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.595.600 Mucopolysaccharidoses 81
C18.452.648.595.600.640 Mucopolysaccharidosis I 29
C18.452.648.595.600.645 Mucopolysaccharidosis II 25
C18.452.648.595.600.650 Mucopolysaccharidosis III 10
C18.452.648.595.600.655 Mucopolysaccharidosis IV 13
C18.452.648.595.600.670 Mucopolysaccharidosis VI 8
C18.452.648.595.600.675 Mucopolysaccharidosis VII 1