Brainscape's Knowledge GenomeTM

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


See full index

step 1 review > Lysosomal storage diseases > Flashcards

Lysosomal storage diseases Flashcards

1
Q

Findings in Fabry Disease

A 
Triad of:
Peripheral neuropathy
Hypohidrosis
Angiokeratomas (buttocks, groin & umbilicus)
Late:
Cardiovascular disease
Renal Failure
Cerebrovascular disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Deficient enzyme in Fabry Disease

A

alpha-galactosidase

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

Accumulated substrate in Fabry Disease

A

Ceramide trihexoside

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

Findings in Gaucher Disease

A 
Hepatosplenomegaly
Pancytopenia 
Bone crisis
Osteoporosis
Asceptic necrosis of femur
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Deficient enzyme in Gaucher Disease

A

Glucocerebrosidase

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

Accumulated substrate in Gaucher Disease

A

Glucocerebroside

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

Findings in Nieman-Pick Disease

A

Hepatosplenomegaly
Cherry red spots on macula
Neurodegeneration

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

Deficient enzyme in Nieman-Pick Disease

A

Sphingomyelinase

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

Accumulated substrate in Nieman-Pick Disease

A

Sphingomyelin

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

Findings in Tay-Sachs Disease

A

Cherry red spots on macula
Neurodegeneration
Developmental delay

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

Deficient enzyme in Tay-Sachs Disease

A

Hexosaminidase A

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

Accumulated substrate in Tay-Sachs Disease

A

GM2 Ganglioside

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

Findings in Krabbe Disease

A

Peripheral neuropathy
Optic atrophy
Globoid cells
Developmental delay

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

Deficient enzyme in Krabbe Disease

A

Galactocerebrosidase

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

Accumulated substrate in Krabbe Disease

A

Galactocerebroside

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

Findings in Metachromatic Leukodistrophy

A

Central & peripheral demyelination - ataxia & dementia

17
Q

Deficient enzyme in Metachromatic Leukodistrophy

A

Aryl sulfatase

18
Q

Accumulated substrate in Metachromatic Leukodistrophy

A

Cerebroside sulfate

19
Q

Findings in Hurler Syndrome

A 
GORGOLISM
Developmental delay
Hepatosplenomegaly
Airway obstruction
Corneal clouding
20
Q

Deficient enzyme in Hurler Syndrome

A

alpha-L-iduronidase

21
Q

Accumulated substrate in Hurler Syndrome

A

Heparan & dermatan sulfate

22
Q

Findings in Hunter Syndrome

A

Mild Hurler Syndrome + Aggressive behavior

23
Q

Deficient enzyme in Hunter Syndrome

A

Iduronate-2-sulfatase

24
Q

Accumulated substrate in Hunter Syndrome

A

Heparan & dermatan sulfate

step 1 review (14 decks)

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