Lysosomal Storage Disorders Flashcards
(8 cards)
1
Q
Fabry’s Disease
A
- X Linked deficency in alpha-galactosidase A
- Ceramide Trihexoside accumulates
- Peripheral Neuropathy, Angiokeratomas, Cardiovascular and Renal disease
2
Q
Gaucher’s Disease
A
-AR
-Glucocerebrosidase Deficency
Accumulates glucocerebroside
-Common, hepatosplenomegaly, asceptic necrosis of femur, Macrophages have tissue paper like appearance
3
Q
Niemann Pick
A
- AR
- Sphingomyleinase
- Sphingomylein accumulates
- Progressive neurodegeneration, Cherry Red spot on retina, hepatosplenomegally, Foam Cells.
- Differentiate from Tay-Sachs by jewish heritage, presence of hepatosplenomegally
4
Q
Tay-Sachs
A
- AR
- Hexosaminidase A deficency
- Accumulation of GM2 ganglioside
- Neruodegeneration with cherry red spot, onion skin lysosomes
- No hepatosplenomegally. Differentiate from Nieman Pick
5
Q
Krabbes
A
AR
Deficency in galactocerebrosidase
Accumulation of galactocerebroside
-Peripheral neuropathy, optic atrophy, gobloid cells
6
Q
Metachromatic Leukodystrophy
A
- AR
- Deficency in arylsulfatase A
- Accumulation of cerebroside sulfate
7
Q
Hurlers Syndrome
A
- AR, Mucopolysacharoidsois
- Deficency in alpha-L-idruonidase
- Accumulation of heparan sulfate and dermatan sulfate
- Gargoylism, airway obstruction, corneal clouding, hepatosplenomegally, developmental delay
8
Q
Hunter’s Syndrome
A
- XR
- Deficenct in iduronate sulfatase
- Accumulation of heparan and dermatan sulfate
- Mild hurlers with no corneal clouding. Will see aggressive behavior
