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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
* stops growth/delayed development * joint/skeletal deformities * psychomotor impairment
I cell disease
26
deposition of undigested dermatan and heparan sulfate in coronary arteries causing ischemia and early death
Hurler syndrome
27
treatment for Hurler syndrome
* bone marrow/cord blood transplant * enzyme replacement therapy
28
what is the inheritance pattern of Fabry disease?
x linked
29
* reddish purple skin rash * kidney/heart failure * burning pain in lower extremities
Fabry disease
30
treatment for Fabry disease
enzyme replacement therapy
31
* demyelination of nerve cells * progressive weakening of muscles
Krabbe disease
32
treatment for Krabbe disease?
umbilical cord blood/bone marrow transplant | slow progression only, does not reverse
33
treatment for metachromatic leukodystrophy?
gene therapy CD34 cells genetically modified with ARSA gene | treatment must be done before significant accumulation
34
* startle response * loss of motor skills * seizures, hearing/vision loss, paralysis
Tay-Sachs
35
treatment for Tay-Sachs?
none
36
* hepatosplenomegaly * psychomotor regression * recurrent lung infection * thrombocytopenia
Niemann-Pick Disease
37
treatment for Neimann-Pick?
recently approved ERT
38
* hepato and splenomegaly * severe joint pain * neurological symptoms * bony abnormalities
Gaucher disease
39
most common lysosomal storage disease
Gaucher
40
"crumpled tissue paper" appearance
Gaucher cells
41
histiocytes in the spleen engorged with sphingomyelin
Neimann Pick
42
lysosomes are produced from
vesicles budding off the Golgi
43
what is the pathophysiology of the "cherry-red" macula?
surrounding ganglions become opaque due to accumulation of undigested gangliosides
44
caused by defects in GlcNac phosphotransferase
I cell disease
45
defective enzyme does not add on a phosphate to the glycosylated acid hydrolase protein resulting in extracellular trafficking where it is inactive
I cell disease
46
caused by defects in the sphingomelinase enzyme
Neimann-Pick
47
leads to accumulation of toxic levels of sphingomyelin, resulting in multi-organ failure
Neimann-Pick
48
recombinant enzyme that degrades sphingomyelin used to treat Neimann-Pick
olupidase alfa
49
caused by defects in alpha-galactosidase A
Fabry disease
50
accumulation of globosides within the cellular lysosomes disrupt cellular function causing pain in extremeties, angiokeratomas, and cornea vertillata
Fabry disease
51
caused by failure to digest glycosaminoglycans
mucopolysaccharidosis
52
* short stature * corneal clouding * poor performance in schools * often consanguinous families
mucopolysaccharidosis
53
easiest way to confirm diagnosis of mucopolysaccharidosis?
urine test
54
* late-onset * burning pain in extremities * angiokeratomas * corneal verticilatta
Fabry disease
55
* hepatosplenomegaly * pancytopenia * easy bruising * "crumpled-tissue" cells
Gaucher disease
56
caused by defects in the GLA gene
Fabry
57
caused by defects in the GBA gene
gaucher
58
caused by defects in SMPD1
Neimann-Pick
59
* hepatosplenomegaly * motor defects/regression * cherry red macula
Neimann-Pick
60
* strong startle response * cherry red macula * motor defects/regression
Tay-Sachs
61
caused by a toxic build up of galactosylceramide
Krabbe
62
large, multi-nucleated globoid cells that interfere with the formation of myelin
Krabbe
63
causes demyelination of nerve cells and progressive failure of the nervous system
Krabbe

GIR Test 3 (16 decks)

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