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Random boards stuff > neurocutaneous disorders > Flashcards

neurocutaneous disorders Flashcards

1
Q

fabry’s deficient enzyme

A

a-galactosidase A

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2
Q

gaucher’s deficient enzyme

A

glucocrebrosidase

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3
Q

niemann pick enzyme

A

sphingomyelinase

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4
Q

tay sachs deficient enzyme

A

hexosaminidase A

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5
Q

krabbe’s deficient enzyme

A

galactocerebrosidase

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6
Q

metachromatic leukodystrophy enzyme

A

arylsulfatase A

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7
Q

hurler’s enzyme

A

a-L iduronidase

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8
Q

hunter’s enzyme

A

iduronate sulfatase

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9
Q

fabry’s substrate

A

ceramide

trihexoside

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10
Q

gaucher’s substrate

A

glucocerebroside

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11
Q

tay sachs substrate

A

GM2 ganglioside

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12
Q

Krabbe’s substrate

A

galactocerebroside

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13
Q

metachromatic leukodystrophy substrate

A

cerebroside sulfate

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14
Q

hurler’s substrate

A

heparan sulfate

dermatan sulfate

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15
Q

hunter’s substrate

A

heparan sulfate dermatan sulfate

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16
Q

X linked recessive

A

Fabry’s

hunter’s

17
Q

cherry red spot with no hepatosplenomegaly

18
Q

cherry red macula with hepatosplenomegaly

A

niemann Pck

19
Q

foam cells

A

neimann pick

20
Q

macrophages that look like crumpled tissue paper

A

Gaucher’s

21
Q

onion skin lysosomes

22
Q

globoid cells

A

krabbe’s

23
Q

hurler’s presentation

A

gargoylism
airway obstruction
corneal clouding

24
Q

hunter’s presentation

A

hurler’s with NO corneal clouding

25
Q

fabry’s presentation

A

peripheral neuropathy
angiokeratomas
CV/Renal dz

26
Q

gaucher’s disease presentation

A

aseptic necrosis of femur
bone crisis
hepatosplenomegaly

27
Q

Nieman pick presentation

A

neurodegeneration
hepatosplenomegally
cherry red macula

28
Q

Tay sachs presentation

A

neurodegeneration
developmental delay
cherry red macula
NO hepatomegaly

29
Q

krabbe presentation

A

peripheral neuropathy
developmental delay
optic atrophy

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