Search on: TAY-SACHS DISEASE, AB VARIANT 
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Descriptor English:   Tay-Sachs Disease, AB Variant 
Descriptor Spanish:   Enfermedad de Tay-Sachs Variante AB 
Descriptor Portuguese:   Doença de Tay-Sachs Variante AB 
Synonyms English:   Gangliosidosis GM2, AB Variant
Gangliosidosis GM2, Type AB
GM2 Protein Activator Deficiency Disease  
Tree Number:   C10.228.140.163.100.435.825.300.300.750
C16.320.565.189.435.825.300.300.750
C16.320.565.398.641.803.350.300.925
C16.320.565.595.554.825.300.300.920
C18.452.132.100.435.825.300.300.750
C18.452.584.687.803.350.300.925
C18.452.648.189.435.825.300.300.750
C18.452.648.398.641.803.350.300.925
C18.452.648.595.554.825.300.300.920
Definition English:   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. 
See Related English:   G(M2) Activator Protein
 
History Note English:   2005(2000); use GANGLIOSIDOSES GM2 2000-2004 
Allowable Qualifiers English:  
blood cerebrospinal fluid
chemically induced classification
complications diet therapy
diagnosis drug therapy
economics ethnology
embryology enzymology
epidemiology etiology
genetics history
immunology metabolism
microbiology mortality
nursing pathology
prevention & control physiopathology
parasitology psychology
radiography rehabilitation
radionuclide imaging radiotherapy
surgery therapy
urine ultrasonography
veterinary virology
Record Number:   38631 
Unique Identifier:   D049290 

Occurrence in VHL: 		 

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