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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

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Disease Name

Enzyme affected

Gene containing mutation

Substrate that accumulates

Tay Sachs

Beta- hexosaminidase A

HEXA

GM2 Ganglioside

Sandhoff

Beta-Hexosaminidase A & Beta-Hexosaminidase B

HEXB

GM2 Ganglioside

GM-1

Beta-galactosidase

GLB1

GM1 Ganglioside

Fabry

Alpha-galactosidase A

GLA

Globotriaoslyceramide

Gaucher

Beta-glucocerebrosidase

GBA

Glucocerebroside

Niemann-Pick Types A & B

Acid-sphingomyelinase

SMPD1

Spingomyelin

Niemann-Pick Type C*

 

NPC1 or NPC2

 

Pompe**

Acid alpha-glucosidase (acid maltase)

GAA

Glycogen

 

*Mutations in the NPC1 or NPC2 genes cause a problem with the transport of lipids (fatty substances) in the cell. These lipids then build up in the cells, which causes cell dysfunction. There is further cell dysfunction because the lipids are not taken to the location where they are needed in the cell.

**Pompe is also a glycogen storage disorder.

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