Glycolipid Storage Diseases Flashcards by Jefferson Rodriguez | Brainscape

Q

Hexosaminidase A

A

Tay-sach’s disease

GM2 ganglioside

No hepatoslenomegally

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Q

a-galactosidase

A

Fabry’s disease

Globotriaosylceramide

Only X-linked recessive
Rash
Renal Failure

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Q

Ceramidase

A

Farber’s disease

Ceramide

Triad
Skin rash
Hoarseness
Bone malformation

AR

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Q

Arylsulfatase A

A

Metachromatic Leukodystrophy

Sulfigalactosylceramide

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Q

B-galactosidase

A

Krabbe’s disease

Galactosylceramide

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Q

B-glucosidase

A

Gaucher’s disease

Glucosylceramide

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Q

Sphingomyelinase

A

Niemann-pick disease

Sphingomyelin

Hepatosplenomegally

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