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USMLE > Lysosomal Storage Diseases > Flashcards

Lysosomal Storage Diseases Flashcards

1
Q

Fabry symptoms

A

Peripheral neuropathy
Angiokeratomas
Cardio/renal disease

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2
Q

Fabry deficiency

A

a-galactosidase A

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3
Q

Fabry accumulation

A

Ceramide trihexoside/globotriaosylceramide

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4
Q

Gaucher symptoms

A 
HSM
Pancytopenia
Ostoeoporosis
Aseptic femoral necrosis
Bone crises
Crumpled tissue paper macrophages
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5
Q

Gaucher deficiency

A

Glucocerebrosidase

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6
Q

Gaucher accumulation

A

Glucocerebroside

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7
Q

Niemann Pick symptoms

A

Progressive neurodegeneration
HSM
Foam cells
Cherry-red macula

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8
Q

Niemann Pick deficiency

A

Sphingomyelinase

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9
Q

Niemann Pick accumulation

A

Sphingomyelin

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10
Q

Tay-Sachs symptoms

A

Neurodegeneration
Developmental delay
Cherry red macula
Onion skin lysosomes

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11
Q

Tay-Sachs deficiency

A

Hexosaminidase A

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12
Q

Tay-Sachs accumulation

A

GM2 ganglioside

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13
Q

Krabbe symptoms

A

Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells

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14
Q

Krabbe deficiency

A

Galactocerebrosidase

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15
Q

Krabbe accumulation

A

Galactocerebroside

Psychosine

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16
Q

Metachromatic leukodystrophy symptoms

A

Central and peripheral demyelination–>ataxia, dementia

17
Q

Metachromatic leukodystrophy deficiency

A

Arylsulfatase A

18
Q

Metachromatic leukodystrophy accumulation

A

Cerebroside sulfate

19
Q

Hurler symptoms

A 
Developmental delay
Gargoylism
Airway obstruction
Corneal clouding
HSM
20
Q

Hurler deficiency

A

a-L-iduronidase

21
Q

Hurler accumulation

A

Heparan sulfate, dermatan sulfate

22
Q

Hunter symptoms

A

Mild Hurler+aggression
NO corneal clouding
(Hunter needs to see across the iditarod clearly to aggressively target the X)

23
Q

Hunter deficiency

A

Iduronate sulfatase

24
Q

Hunter accumulation

A

Heparan sulfate, dermatan sulfate

USMLE (52 decks)

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