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GIR Test 3 > B5-086 Lysosomal Disorders > Flashcards

B5-086 Lysosomal Disorders Flashcards

1
Q

what enzyme is deficient in Tay-Sachs?

A

HeXosaminidase A

tAy-saX

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2
Q

what substrate accumulates in Tay-Sachs?

A

GM2 ganglioside

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3
Q
  • progressive degeneration
  • developmental delay
  • hyperreflexia
  • no hepatosplenomegaly
A

Tay-Sach’s

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4
Q

cherry red macula

2

A

Tay-Sachs
Neimann-Pick disease

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5
Q

onion skin lysosomes

A

Tay-Sachs

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6
Q
  • episodic peripheral neuropathy
  • angiokeratomas
  • hypophrisis

early presentation

A

Fabry disease

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7
Q

progresses to renal failure and cardiovascular disease

A

fabry disease

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8
Q

what enzyme is deficient in fabry disease?

A

a-galactosidase A

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9
Q

what substrate accumulates in fabry disease?

A

globosides

FA: ceramide-trihexoside

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10
Q

central and peripheral demyelination with ataxia and dementia

A

metachromatic leukodystrophy

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11
Q

what enzyme is deficient in metachromatic leukodystrophy?

A

arylsuflatase A

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12
Q

what substrate accumulates in metachromatic leukodystrophy?

A

sulfatides

FA: cerebroside sulfate

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13
Q
  • peripheral neuropathy
  • destruction of oligodendrocytes
  • developmental delay
  • optic atrophy
  • globoid cells
A

Krabbe disease

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14
Q

what enzyme is deficient in Krabbe disease?

A

galactosylceramidase

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15
Q

what substrate accumulates in Krabbe disease?

2

A

galactosylceramide and psychosine

forms globoid cells, damaging myelin

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16
Q
  • hepatosplenomegaly
  • pancytopenia
  • osteoporosis
  • AVN of femur
  • bone crises
  • Gaucher cells
A

Gaucher disease

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17
Q

what enzyme is deficient in gaucher disease?

A

glucocerebrosidase

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18
Q

what substrate accumulates in Gaucher disease?

A

glucocerebroside fibrils in macrophages

Gaucher cells

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19
Q

treat with recombinant glucocerebrosidase

A

Gaucher disease

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20
Q
  • progressive neurodegeneration
  • hepatosplenomegaly
  • foam cells
  • cherry-red macula
A

Neimann Pick

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21
Q

what enzyme is deficienct in Neimann-Pick disease?

A

spingomyelinase

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22
Q

what substrate accumulates in Neimann-Pick disease?

A

sphingomyelin

causes multi-organ failure

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23
Q

what enzyme is mutated in I cell disease?

A

GlcNAc phosphotransferase

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24
Q
  • mutation in GlcNAc phosphotransferase
  • accumulation of storage materials in lysosomes
A

I cell disease

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25
Q
  • stops growth/delayed development
  • joint/skeletal deformities
  • psychomotor impairment
A

I cell disease

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26
Q

deposition of undigested dermatan and heparan sulfate in coronary arteries causing ischemia and early death

A

Hurler syndrome

27
Q

treatment for Hurler syndrome

A
  • bone marrow/cord blood transplant
  • enzyme replacement therapy
28
Q

what is the inheritance pattern of Fabry disease?

A

x linked

29
Q
  • reddish purple skin rash
  • kidney/heart failure
  • burning pain in lower extremities
A

Fabry disease

30
Q

treatment for Fabry disease

A

enzyme replacement therapy

31
Q
  • demyelination of nerve cells
  • progressive weakening of muscles
A

Krabbe disease

32
Q

treatment for Krabbe disease?

A

umbilical cord blood/bone marrow transplant

slow progression only, does not reverse

33
Q

treatment for metachromatic leukodystrophy?

A

gene therapy
CD34 cells genetically modified with ARSA gene

treatment must be done before significant accumulation

34
Q
  • startle response
  • loss of motor skills
  • seizures, hearing/vision loss, paralysis
A

Tay-Sachs

35
Q

treatment for Tay-Sachs?

A

none

36
Q
  • hepatosplenomegaly
  • psychomotor regression
  • recurrent lung infection
  • thrombocytopenia
A

Niemann-Pick Disease

37
Q

treatment for Neimann-Pick?

A

recently approved ERT

38
Q
  • hepato and splenomegaly
  • severe joint pain
  • neurological symptoms
  • bony abnormalities
A

Gaucher disease

39
Q

most common lysosomal storage disease

A

Gaucher

40
Q

“crumpled tissue paper” appearance

A

Gaucher cells

41
Q

histiocytes in the spleen engorged with sphingomyelin

A

Neimann Pick

42
Q

lysosomes are produced from

A

vesicles budding off the Golgi

43
Q

what is the pathophysiology of the “cherry-red” macula?

A

surrounding ganglions become opaque due to accumulation of undigested gangliosides

44
Q

caused by defects in GlcNac phosphotransferase

A

I cell disease

45
Q

defective enzyme does not add on a phosphate to the glycosylated acid hydrolase protein resulting in extracellular trafficking where it is inactive

A

I cell disease

46
Q

caused by defects in the sphingomelinase enzyme

A

Neimann-Pick

47
Q

leads to accumulation of toxic levels of sphingomyelin, resulting in multi-organ failure

A

Neimann-Pick

48
Q

recombinant enzyme that degrades sphingomyelin used to treat Neimann-Pick

A

olupidase alfa

49
Q

caused by defects in alpha-galactosidase A

A

Fabry disease

50
Q

accumulation of globosides within the cellular lysosomes disrupt cellular function causing pain in extremeties, angiokeratomas, and cornea vertillata

A

Fabry disease

51
Q

caused by failure to digest glycosaminoglycans

A

mucopolysaccharidosis

52
Q
  • short stature
  • corneal clouding
  • poor performance in schools
  • often consanguinous families
A

mucopolysaccharidosis

53
Q

easiest way to confirm diagnosis of mucopolysaccharidosis?

A

urine test

54
Q
  • late-onset
  • burning pain in extremities
  • angiokeratomas
  • corneal verticilatta
A

Fabry disease

55
Q
  • hepatosplenomegaly
  • pancytopenia
  • easy bruising
  • “crumpled-tissue” cells
A

Gaucher disease

56
Q

caused by defects in the GLA gene

A

Fabry

57
Q

caused by defects in the GBA gene

A

gaucher

58
Q

caused by defects in SMPD1

A

Neimann-Pick

59
Q
  • hepatosplenomegaly
  • motor defects/regression
  • cherry red macula
A

Neimann-Pick

60
Q
  • strong startle response
  • cherry red macula
  • motor defects/regression
A

Tay-Sachs

61
Q

caused by a toxic build up of galactosylceramide

A

Krabbe

62
Q

large, multi-nucleated globoid cells that interfere with the formation of myelin

A

Krabbe

63
Q

causes demyelination of nerve cells and progressive failure of the nervous system

A

Krabbe

GIR Test 3 (16 decks)

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