6.15 Complex Lipids

Question 1

Tay-Sachs Disease

Answer 1

Defective Enzyme: Beta Hexosamidase A,

Accumulation of gangliosides (GM2)

Question 2

GM1 Gangliosidosis

Answer 2

Defective Enzyme: Beta Galactosidase,

Accumulation of gangliosides (GM1) and keratan sulfate

Question 3

Gaucher Disease

Answer 3

Defective Enzyme: Beta Glucosidase (glucocerebrosidase),

Accumulation of glucocerebrosides

Question 4

Metachromatic Leukodystrophy

Answer 4

Defective Enzyme: Arylsulfatase A,

Accumulation of sulfatides

Question 5

Krabbe Disease (Globoid cell leukodystrophy)

Answer 5

Defective Enzyme: beta galactosidase,

Accumulation of galactocerebrosides

Question 6

Sandhoff Disease

Answer 6

Defective Enzyme: beta hexosaminidase,

Accumulation of GM2 and globosides

Question 7

Fabry Disease

Answer 7

Defective Enzyme: alpha galactosidase,

Accumulation of globosides

Question 8

Niemann-Pick Disease

Answer 8

Defective Enzyme: sphingomyelinase,

Accumulation of sphingomyelin

Question 9

Farber Disease

Answer 9

Defective Enzyme: ceraminidase,

Accumulation of ceramide