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Clinical Neurology > Biochem- Sphingolipids and Sphingolipidoses > Flashcards

Biochem- Sphingolipids and Sphingolipidoses Flashcards

1
Q

What alcohol are sphingolipids derived from?

A

-Sphingosine and contain ceramide

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2
Q

Wha are the two types of sphingolipids?

A

Sphingomyelin and Glycosphingolipds

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3
Q

What is the main difference between spingomyelin and glycosphingolipids?

A

-Sphingomyelin contains no sugar units, glycosphingolipids do

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4
Q

Niemann-Pick disease is characterized by _________________.

A

-The accumilation of sphingomyelin and cholesterol

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5
Q

What are the four types of Niemann-Pick?

A

-Type A, B, C, and D

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6
Q

What is defective in both Type A and B Neimann-Pick?

A

Sphingomyelinase

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7
Q

What is the result of the sphingomyelinase deficiency in Neimann-Pick?

A

-No sphingomyelin breakdown, and therefore an accumilation of sphingomyelin in the brain, liver and spleen.

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8
Q

What population is at highest risk for Type A Neimann-Pick?

A

Ashkenazi Jews: severe form–> death within a few years of birth

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9
Q

What distinguishes Type A from Type B?

A

Type A: <1% Sphingomyelinase activity, early death

Type B: ~10% sphingomyelinase activity, may live to adulthood

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10
Q

What is the main defec in type C and D Neimann-Pick?

A

-defect in cholesterol transport resulting in accumilation of cholesterol

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11
Q

What are cerebrosides?

A

-Glycosphingolipids that contain at least one sugar residue (aka ceremide monosaccharides)

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12
Q

Where are cerebrocides particularly prominent?

A

in the myelin sheath

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13
Q

What are the two mst important cerebrocides?

A

Galactocerebrocide

Glucocerebrocide

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14
Q

A deficiency of what enzyme will cause an accumilation of glucocerebroside?

A

-ß-glucosidase

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15
Q

What diesase is characterized by a deficiency of ß-glucosidase?

A

Gaucher disease

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16
Q

Where does glucocerebroside accumilate in Gaucher disease?

A

Bone Marrow, liver and spleen (Gaucher cells)

17
Q

What are the three types of gaucher disease?

A

Type 1: Chronic non-neuropathic

Type 2: Acute neuropathic

Type 3: subacute neuropathic

18
Q

Which of the gaucher disease types is most severe? How about the most mild?

A
  • Type 2 is the most sever and affects the brain the most (death withen the first 2 years of life)
  • Type 1 is the most mild
19
Q

Which gaucher disease ype is the most common? Which ones are treatable?

A
  • Type 1 (chronic non-neuropathic) is the most common.
  • Type1 and Type3 are both treatable with enzyme replacement therapy
20
Q

What is Krabb disease?

A

an accumilation of galactocerebroside caused by a deficiency of ß-galactosidase

21
Q

What is a characteristic accumilation in Krabb disease?

A

-Accumilations of macrophages around blood vesels call globoid cells

22
Q

Is there demyelination in Krabb disease?

A

Yes

23
Q

What disease is characterized by a deficiency of alpha-galactosidase?

A

-Fabry disease

24
Q

What accumilates due to a deficiency of alpha-galactosidase?

A

Ceremide trihexoside

25
Q

What is sulphatide?

A

-a galactocerebroside with a sulfate moiety attached

(ß-sulphogalactocerebroside)

26
Q

If there is a lack of brakdown of sulftide by lysosomal sulphatase, what disease results?

A

Metachromatic leukodystrophy

27
Q

What accumilates in Tay-Sachs disease?

A

-Ganglioside GM2

28
Q

What enzyme is deficient in Tay-Sachs?

A

Hexosamidase A

29
Q

What is the mode of inheritance of all of these sphingolipidoses? Which one is the only exception?

A
  • Autosomal recessive
  • Fabry’s which is X-linked
30
Q

What are currently the only treatable sphingolipidoses?

A

-Gaucher disease and fabry disease

31
Q

What is the most prevelent sphingolipidosis?

A

-Gaucher followed by Tay-Sachs

Clinical Neurology (8 decks)

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