Sphingolipidoses Overview

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Questions and Answers

Which enzyme deficiency is associated with Tay Sachs disease?

  • glucocerebrosidase
  • galactocerebrosidase
  • sphingomyelinase
  • hexamidase A (correct)

What is the principal storage substance in Gaucher's disease?

  • Sphingomyelin
  • Glucocerebroside (correct)
  • Galactocerebroside
  • Globoside

Which sphingolipidoses is linked to the deficiency of GM1 ganglioside β galactosidase?

  • Generalized Gangliosidosis (correct)
  • Fabry's
  • Krabbe's
  • Niemann-Pick

In which sphingolipidosis does globoside accumulate due to enzyme deficiency?

<p>Sandhoff's (C)</p> Signup and view all the answers

Krabbe's disease is characterized by the accumulation of which principal storage substance?

<p>Galactocerebroside (D)</p> Signup and view all the answers

Which sphingolipidosis is associated with a deficiency in both hexamidase A and hexamidase B?

<p>Sandhoff's disease (B)</p> Signup and view all the answers

Which of the following diseases results from a deficiency in an enzyme related to the metabolism of glucocerebroside?

<p>Gaucher's disease (D)</p> Signup and view all the answers

What is the principal storage substance that accumulates in generalized gangliosidosis?

<p>Ganglioside GM1 (C)</p> Signup and view all the answers

Which enzyme deficiency is linked specifically to the accumulation of galactocerebroside?

<p>galactocerebrosidase (D)</p> Signup and view all the answers

In Tay Sachs disease, which enzyme deficiency directly affects the breakdown of ganglioside GM2?

<p>hexamidase A (B)</p> Signup and view all the answers

What is the enzyme deficiency found in Fabry's disease?

<p>α-galactosidase A (D)</p> Signup and view all the answers

Which of the following diseases is associated with the accumulation of ganglioside GM1?

<p>Generalized Gangliosidosis (C)</p> Signup and view all the answers

What is the principal storage substance in Fabry's disease?

<p>Ceramide-trihexoside (A)</p> Signup and view all the answers

Which enzyme deficiency is linked with the principal storage substance ceramide-trihexoside?

<p>α-galactosidase A (C)</p> Signup and view all the answers

Which sphingolipidosis is characterized by the absence of GM1 ganglioside β-galactosidase?

<p>Generalized Gangliosidosis (A)</p> Signup and view all the answers

Flashcards

Tay-Sachs Disease

A genetic disorder caused by a deficiency in the enzyme hexosaminidase A, leading to the accumulation of ganglioside GM2 in the brain.

Gaucher's Disease

A genetic disorder characterized by the accumulation of glucocerebroside, caused by a deficiency in glucocerebrosidase.

Niemann-Pick Disease

A genetic disorder resulting from a deficiency in sphingomyelinase, causing the accumulation of sphingomyelin.

Krabbe's Disease

A genetic disorder that is the result of a deficiency in galactocerebrosidase, leading to the buildup of galactocerebroside in the nervous system.

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Generalized Gangliosidosis

A genetic disorder characterized by accumulation of GM1 ganglioside due to a deficiency in GM1 ganglioside β-galactosidase.

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Sphingolipids

A class of lipids that play a role in cell signaling, structure, and myelin formation.

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Sphingolipidoses

Genetic disorders caused by defects in enzymes that break down sphingolipids, leading to their accumulation in various tissues.

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Fabry's Disease

A rare genetic disorder where ceramide-trihexoside builds up in the body due to a lack of the enzyme α-galactosidase A.

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Ceramide-trihexoside

A complex sphingolipid that accumulates in Fabry's disease due to the deficiency of the enzyme α-galactosidase A.

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Enzyme Deficiency

A lack or malfunction of a specific enzyme essential for breaking down a substance in the body, leading to its accumulation.

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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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