Podcast
Questions and Answers
Which enzyme deficiency is associated with Tay Sachs disease?
Which enzyme deficiency is associated with Tay Sachs disease?
What is the principal storage substance in Gaucher's disease?
What is the principal storage substance in Gaucher's disease?
Which sphingolipidoses is linked to the deficiency of GM1 ganglioside β galactosidase?
Which sphingolipidoses is linked to the deficiency of GM1 ganglioside β galactosidase?
In which sphingolipidosis does globoside accumulate due to enzyme deficiency?
In which sphingolipidosis does globoside accumulate due to enzyme deficiency?
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Krabbe's disease is characterized by the accumulation of which principal storage substance?
Krabbe's disease is characterized by the accumulation of which principal storage substance?
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Which sphingolipidosis is associated with a deficiency in both hexamidase A and hexamidase B?
Which sphingolipidosis is associated with a deficiency in both hexamidase A and hexamidase B?
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Which of the following diseases results from a deficiency in an enzyme related to the metabolism of glucocerebroside?
Which of the following diseases results from a deficiency in an enzyme related to the metabolism of glucocerebroside?
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What is the principal storage substance that accumulates in generalized gangliosidosis?
What is the principal storage substance that accumulates in generalized gangliosidosis?
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Which enzyme deficiency is linked specifically to the accumulation of galactocerebroside?
Which enzyme deficiency is linked specifically to the accumulation of galactocerebroside?
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In Tay Sachs disease, which enzyme deficiency directly affects the breakdown of ganglioside GM2?
In Tay Sachs disease, which enzyme deficiency directly affects the breakdown of ganglioside GM2?
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What is the enzyme deficiency found in Fabry's disease?
What is the enzyme deficiency found in Fabry's disease?
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Which of the following diseases is associated with the accumulation of ganglioside GM1?
Which of the following diseases is associated with the accumulation of ganglioside GM1?
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What is the principal storage substance in Fabry's disease?
What is the principal storage substance in Fabry's disease?
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Which enzyme deficiency is linked with the principal storage substance ceramide-trihexoside?
Which enzyme deficiency is linked with the principal storage substance ceramide-trihexoside?
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Which sphingolipidosis is characterized by the absence of GM1 ganglioside β-galactosidase?
Which sphingolipidosis is characterized by the absence of GM1 ganglioside β-galactosidase?
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Study Notes
Sphingolipidoses
- Tay Sachs: Principal storage substance is Ganglioside GM2. Enzyme deficiency is hexamidase A.
- Gaucher's: Principal storage substance is Glucocerebroside. Enzyme deficiency is glucocerebrosidase.
- Niemann-Pick: Principal storage substance is Sphingomyelin. Enzyme deficiency is sphingomyelinase.
- Krabbe's: Principal storage substance is Galactocerebroside. Enzyme deficiency is galactocerebrosidase.
- Generalized Gangliosidosis: Principal storage substance is Ganglioside GM1. Enzyme deficiency is GM1 ganglioside β galactosidase.
- Fabry's: Principal storage substance is Ceramide-trihexoside. Enzyme deficiency is α-galactosidase A.
- Sandhoff's: Principal storage substance is Globoside. Enzyme deficiency is Hexamidase A,B.
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Description
This quiz covers the various types of sphingolipidoses, focusing on their principal storage substances and enzyme deficiencies. Test your knowledge on conditions like Tay Sachs, Gaucher's, and Fabry's diseases among others. Understand the biochemical implications of each disorder.
