Tay-Sachs Disease, AB Variant [Tay-Sachsova nemoc, varianta AB]
- Terms
-
aktivátor proteinu GM2 - nedostatek
deficit G(M2) aktivátorového proteinu
gangliosidóza GM2 - typ AB
gangliosidóza GM2 - varianta AB
nedostatek G(M2) aktivátorového proteinu
Tayova-Sachsova nemoc, typ AB
-
AB Variant Gangliosidosis GM2
AB Variant GM2-Gangliosidosis
Activator Deficiency GM2 Gangliosidosis
Activator-Deficient Tay-Sachs Disease
Deficiency Disease, GM2 Protein Activator
Gangliosidosis GM2, AB Variant
Gangliosidosis GM2, Type AB
GM2 Activator Deficiency
GM2 Activator Deficiency Disease
GM2 Gangliosidosis, Type AB
GM2 Protein Activator Deficiency Disease
GM2-Gangliosidosis, AB Variant
Hexosaminidase Activator Deficiency
Hexosaminidase Activator Protein Deficiency Disease
A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.
- DUI
- D049290 MeSH Browser
- CUI
- M0335225
- Previous indexing
- Gangliosidoses (2000-2004)
- History note
- 2005(2000); use GANGLIOSIDOSES GM2 2000-2004
- Public note
- 2005; see GANGLIOSIDOSES GM2 2000-2004
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology