Brainscape's Knowledge GenomeTM

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


See full index

DSNM > Lysosomal Storage Disorders > Flashcards

Lysosomal Storage Disorders Flashcards

1
Q

Fabry Disease

  • defect
  • type
  • sx 5
  • accuulating molecule
  • mode of inheritance
A

A-galactosidase defect=sphingolipid

  • Febrile, burning pain, necropathy, renal failure, corneal clouding
  • cereamide trihexoside
  • XLR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Krabbe

  • defect
  • type
  • sx 3
  • accuulating molecule
  • mode of inheritance
A

B-galactocerebrosidase=sphingolipid

  • developmental delay,optic atrophy, neuro-degen
  • Galactocerebroside
  • AR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Gaucher disease

  • defect
  • type
  • sx 3
  • accuulating molecule
  • mode of inheritance
A

Glucocerebrosidase/Beta glucosidase=sphingolipid

  • bone fragility, hepatosplenomegaly, decreased platelets
  • Glucocerebroside
  • AR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Nieman Pick

  • defect
  • type
  • sx 4
  • accuulating molecule
  • mode of inheritance
A 
SPhingomyelinase=sphingolipid
-Cherry red macula, hepatomegaly, skill regression, pancytopenia
-Sphingomyelin
-AR
Type A treated with Chapterone addition
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Tay Sachs

  • defect
  • type
  • sx 5
  • accuulating molecule
  • mode of inheritance
A

B-hexosaminidase A=sphingolipid

  • cherry red macula, seizures, poor growth, bad vision, weakness
  • Gangliosides
  • AR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Metachomatic leukodystrophy

  • defect
  • type
  • sx 5
  • accuulating molecule
  • mode of inheritance
A

Arylsulfatase A=sphingolipid

  • Muscle wasting, joint rigidity, dementia, psych/vision probs
  • Sulfatides
  • AR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Hunter

  • defect
  • type
  • sx 5
  • accuulating molecule
  • mode of inheritance
A

Iduronate Sulfatase=GAG

  • coarseness of features, ear/throat infection, joint stiffness, hepatosplenomegal, neuopathy
  • dermatan/herpan sulfate
  • XLR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Hurler

  • defect
  • type
  • sx 4
  • accuulating molecule
  • mode of inheritance
A

A-L-Idurodinase=GAG

  • cloudy corena, coarseness of facial features, joint stiffness, neuroissues
  • Dermatan/herparan sulfate
  • AR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Pompe-defect

  • type
  • sx 4
  • accuulating molecule
  • mode of inheritance
A

A-1,4 glucosidase=glycogen

  • cardiomegaly, LVH, excercise interolnce, early death
  • glycogen
  • AR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

type A vs B neiman pick

A

A-extensive neuro invovement

B-organomegally but not nervous system involvement

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

DSNM (22 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions