Definição:
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
Sinônimos:
Doença da Deficiência da Hexosaminidase A /
Gangliosidose G(M2) Tipo I /
Gangliosidose GM2 Variante B /
Doença de Tay-Sachs Variante B /
DOENÇAS
Doenças Nutricionais e Metabólicas