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unit 6 mcp > complex lipids in health ( mainly diseases) > Flashcards

complex lipids in health ( mainly diseases) Flashcards

1
Q

defective enzyme in Tay Sachs ?

A

Beta- Hexosaminidase A ( alpha subunit)

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2
Q

defective enzyme in Gaucher Disease?

A

Beta -Glucosidase ( glucocerebrosidase)

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3
Q

defective enzyme in Metachromatic Leukodystrophy?

A

Arylsulfatase A

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4
Q

defective enzyme in Krabbe disease ( globoid cell leukodystrophy)?

A

beta-galactosidase ( galactocerebrosidase)

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5
Q

defective enzyme in Faber disease?

A

ceraminidase

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6
Q

defective enzyme in Niemann-Pick Disease ( A+B)?

A

sphingomyelinase

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7
Q

defective enzyme in Fabry Disease?

A

alpha-galactosidase

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8
Q

defective enzyme in sandhoff disease?

A

Beta- Hexosaminidase A ( beta subunit) and B

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9
Q

defective enzyme in GM1 Gangliosidosis?

A

beta-galactosidase

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10
Q

All lysosomal storage diseases discussed are autosomal recessive except for ____________ which is x-linked?

A

Fabry Disease

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11
Q

what accumulates in Tay-Sachs ?

A

gangliosides

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12
Q

what accumulates in Gaucher disease ?

A

glucocerebrosides

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13
Q

what accumulates in Metachromatic Leukodystrophy ?

A

sulfatides

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14
Q

what accumulates in Krabbe disease ( globoid cell leukodystrophy) ?

A

galactocerebrosides

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15
Q

what accumulates in Faber disease ?

A

ceramide

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16
Q

what accumulates in Niemann-Pick Disease ( A+B)?

A

spingomyelin

17
Q

what accumulates in Fabry Diseasae ?

A

globisides

18
Q

what accumulates in sandhoff disease?

A

GM2 and globosides

19
Q

what accumulates in GM1 Gangliosidosis?

A

gangliosides

20
Q

what is the most common lysosomal storage disease?

A

gaucher disease

21
Q

what is the treatment for Fabry Disease?

A

gene therapy

22
Q

what is the treatment for gaucher disease?

A

enzyme replacement therapy, gene therapy, bone marrow transplant, substrate reduction therapy

unit 6 mcp (6 decks)

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