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Definition

An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset).

Acronym

GM2G1

Synonyms

GM2-gangliosidosis B variant
HEXA deficiency
Hexosaminidase A deficiency
Tay-Sachs disease
Tay-Sachs disease pseudo-AB variant
Tay-Sachs disease variant B1
TSD

Keywords

Gangliosidosis
Neurodegeneration

 
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