Brainscape's Knowledge GenomeTM

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


See full index

DEMS Exam IIa > Storage diseases - Taylor > Flashcards

Storage diseases - Taylor Flashcards

1
Q

Beta-hexosaminidase A
Cherry red spot (classic)
Increased startle reflex
Normal liver/spleen

A

Tay Sachs Type I

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

Tay Sachs Type I

A

Beta-hexosaminidase A
Cherry red spot (classic)
Increased startle reflex
Normal liver/spleen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q 
Beta glucosidase (gluco- cerebrosidase) 
Adult onset
Big liver/spleen Anemia/low platelets
↑ Ashkenazi Jews
Erlenmeyer flask deformity (Xray)
A

Gaucher disease

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

Gaucher disease

A 
Beta glucosidase (gluco- cerebrosidase) 
Adult onset
Big liver/spleen Anemia/low platelets
↑ Ashkenazi Jews
Erlenmeyer flask deformity (Xray)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Which two lysosomal storage diseases are NOT autosomal recessive? What is their inheritance

A

Hunter - X-linked. Women have no disease

Fabry - X linked. Women have delayed disease

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

Alpha galactosidase
+Treatment
Angiokeratomas (bathing trunk distribution),
Renal Failure
Acroparesthesias (pain in palms and soles),
Normal IQ

A

Fabry

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

Fabry

A

Alpha galactosidase
+Treatment
Angiokeratomas (bathing trunk distribution),
Renal Failure
Acroparesthesias (pain in palms and soles),
Normal IQ

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

♦Alpha-glucosidase
Infant with profound
weakness and hypertrophic CM or Adult with proximal muscle weakness and sleep apnea

A

Pompe Disease

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

Pompe Disease

A

♦Alpha-glucosidase
Infant with profound
weakness and hypertrophic CM or Adult with proximal muscle weakness and sleep apnea

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

♦Iduronate sulfatase

Coarse-appearing child, who is short, has hoarse voice, frequent URIs and some learning problems; NO corneal clouding

A

Hunter

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

Hunter

A

♦Iduronate sulfatase

Coarse-appearing child, who is short, has hoarse voice, frequent URIs and some learning problems; NO corneal clouding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q 
♦alpha iduronidase 
Similar to Hunter (can occur in girls); 
Coarse facies, 
big liver/spleen, 
major skeletal problems, 
corneal clouding
A

Hurler

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

Hurler

A 
♦alpha iduronidase 
Similar to Hunter (can occur in girls); 
Coarse facies, 
big liver/spleen, 
major skeletal problems, 
corneal clouding
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

♦ Glycogen phosphorylase
Muscle cramping after exercise;
myogolbuinuria (coffee colored urine after exercise)

A

McArdle

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

McArdle

A

♦ Glycogen phosphorylase
Muscle cramping after exercise;
myogolbuinuria (coffee colored urine after exercise)

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

Name the LSD that are treatable.

A 
Gaucher
Fabry
Pompe
Hunter
Hurler
17
Q

Name LSD that are fatal for which no treatment exists.

A

Tay-Sachs

18
Q

Name LSD that are fatal without treatment.

A

Fabry (males will die around 40)
Pompe (infant)
Hunter (severe cases will die)
Hurler (severe cases will die)

DEMS Exam IIa (9 decks)

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