Lysosomal storage diseases Flashcards
1
Q
Fabry Disease
1) inheritance
2) deficient enzyme
3) accumulated metabolite
4) s/s
A
1) x-linked recessive
2) alpha-galactosidase
3) ceramide trihexoside
4) angiokeratomas, heart/kidneys/nerves (painful neuropathy)
- skin, heart, kidneys, nerves
2
Q
Gaucher disease
- inheritance
- def enzyme
- accum metabolite
- s/s
A
- AR
- beta-glucocerebrosidase
- glucocerebroside
- HSM, pancytopenia, severe bone and joint pain
gaucher cells (macrophages that look like crumped tissue paper)
- liver/spleen, BM, bone/joints
3
Q
Hurler syndrome
- inheritance
- def enzyme
- accum metabolite
- s/s
A
- AR
- alpha-L-iduronidase
- dermatan and heparan sulfate
- HSM, deve’t delay, gargoylism, corneal clouding, airway obstruction
- liver/spleen, brain, face, eyes, lungs
4
Q
Hunter syndrome
- inheritance
- def enzyme
- accum metabolite
- s/s
A
- X-linked recessive
- iduronate sulfatase
- dermatan and herparan sulfate
- same as Hurler but more aggressive and no corneal clouding
- liver/spleen, brain, face
5
Q
Niemann-Pick disease
- inheritance
- def enzyme
- accum metabolite
- s/s
A
- AR
- spingomyelinase
- sphingomyelin
- HSM, cherry-red macula spot, progressive neurodegen, foam cells
- liver/spleen, macula, brain
6
Q
Tay Sachs
- inheritance
- def enzyme
- accum metabolite
- s/s
A
- AR
- beta-hexoaminidase A
- GM2 and ganglioside
- cherry-red macula spot, progressive neurodeg
- macula, brain
7
Q
Krabbe disease
- inheritance
- def enzyme
- accum metabolite
- s/s
A
- AR
- galactocerebrosidase
- galactosyl-sphingosine and galactocerebroside
- progressive neurodeg and optic atrophy
brain and eyes
8
Q
Metachromatic leukodystrophy
- inheritance
- def enzyme
- accum metabolite
- s/s
A
- ,AR
- arylsulfatase A
- cerebroside sulfate
- muscle wasting, dementia, ataxia
muscle brain
9
Q
Sphingolipidoses (6)
A
- Tay Sachs
- Fabry
- Gaucher
- Niemann Pick
- Krabbe
- Metachromic leukodystrophy
10
Q
Mucopolysaccharidoses (2)
A
hurler
hunter