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Sketchy Biochemistry > LSDs > Flashcards

LSDs Flashcards

1
Q

tay sachs

A

hexosaminidase A deficiency
GM2 accumulation

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2
Q

gaucher

A

glucocerebrosidase deficiency
glucocerebroside accumulation

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3
Q

krabbe

A

galactocerebrosidase deficiency
galactocerebroside accumulation

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4
Q

fabry

A

a-galactosidase A deficiency
ceramide trihexoside accumulation

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5
Q

metachromatic leukodystrophy

A

arylsulfatase A deficiency
cerebroside sulfate accumulation

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6
Q

niemann-pick

A

sphingomyelinase deficiency
sphingomyelin accumulation

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7
Q

tay sachs presentation

A

hyperreflexia (startled response)
+cognitive deficits

(normal until around 3-6 months)

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8
Q

cherry red macula found in what diseases?

A

tay sach
niemann-pick

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9
Q

“onion skin appearance” on lysosomes

A

tay sachs

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10
Q

niemann-pick presentation

A

hepatosplenomegaly
lipid-laden macrophages (foam cells)
+ cognitive deficits

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11
Q

metachromatic leukodystophy presentation

A

peripheral neuropathy
seizures
ataxia

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12
Q

gaucher presentation

A

osteoporosis
avascular necrosis
pancytopenia
hepatosplenomegaly

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13
Q

“crumpled tissue paper” appearance

A

gaucher

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14
Q

globoid cells are associated with what

A

krabbe

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15
Q

krabbe presentation

A

blindness
+ hypotonia/hyperreflexia

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16
Q

LSD with bimodal age distribution

A

gaucher

17
Q

gaucher increases risk for which disease

A

parkinsons

18
Q

fabry inheritance

A

XLR

19
Q

early fabry presentation

A

paresthesias
telangiectasia
cataracts
hyperhydrosis

20
Q

late fabry presentation

A

renal disease
CVD

21
Q

hurler

A

alpha-L-idorunidase deficiency

22
Q

hurler presentation

A

course facial features
communicating hydrocephalus
hepatosplenomegaly
hernias
CORNEAL CLOUDING
DYSOSTOSIS MULTIPLEX

23
Q

hunter

A

idorunidate-2-sulfatase deficiency

24
Q

hunter presentation

A

milder hurler presentation
aggressive behavior
NO corneal clouding

25
Q

hunter inheritance

A

XLR

Sketchy Biochemistry (4 decks)

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