Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Biochem review USMLE > lysosomal storage diseases > Flashcards

lysosomal storage diseases Flashcards

You may prefer our related Brainscape-certified flashcards:
USMLE® Step 1 flashcards
1
Q

2 lysosomal stroage diseases that are X-linked recessive

A

Fabry

Hunter

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Fabry disease enzyme deficient

A

a-galactosidase A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Fabry substrate accumulated

A

ceramide trihexoside

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Fabry characteristic features

A

angiokeratomas, peripheral neuropathy, decreased sweating

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Gaucher enzyme deficient

A

glucocerebrosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Gaucher substrate accumulated

A

glucocerebroside

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Gaucher characteristic features

A

bone crises, aseptic necrosis of femur, Gaucher cells on bone marrow aspirate (crumpled paper)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Niemann-Pick enzyme deficient

A

spingomyelinase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Niemann-Pick substrate accumulated

A

sphingomyelin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Niemann-Pick characteristic features

A

hepatosplenomegaly, cherry-red macula, foam cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Tay-Sachs enzyme deficient

A

hexosaminidase A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Tay-Sachs substrate accumulated

A

GM2 gangliosides

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Tay-Sachs characteristic features

A

neurodegeneration, onion-skin lysosomes, cherry-red macula

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Krabbe disease enzyme deficient

A

galactocerebrosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Krabbe disease substrate accumulated

A

galactocerebroside

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Krabbe disease characteristic features

A

peripheral neuropathy, optic atrophy, globoid cells

17
Q

metachromatic leukodystrophy enzyme deficiency

A

arylsuflatase A

18
Q

metachromatic leukodystrophy substrate accumulated

A

cerebroside sulfate

19
Q

metachromatic leukodystrophy characteristic features

A

demyelination with ataxia, dementia

20
Q

hurler syndrome enzyme deficiency

A

a-L-iduronidase

21
Q

hurler syndrome substrate accumulated

A

heparan sulfate, dermatan sulfate

22
Q

hurler syndrome characteristic features

A

corneal clouding

23
Q

Hunter syndrome enzyme deficiency

A

iduronate sulfatase

24
Q

Hunter syndrome substrate accumulated

A

heparan sulfate, dermatan sulfate

25
Q

Hunter syndrome characteristic features

A

aggressive behavior, no corneal clouding

Biochem review USMLE (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions