Lysosomal Storage Diseases Flashcards
1
Q
Fabry disease
A
- Deficient a-galactosidase A
- Ceramide trihexoside excess
- XLR
- Peripheral neuropathy of hands/feet
- Angiokeratomas
- Increased risk of CVD & renal disease
2
Q
Gaucher disease
A
MOST COMMON LSD
- Deficient Glucocerebrosidase
- Glucocerebroside excess
- HSM
- Pancytopenia
- Aseptic necrosis of femur/ bone crises
- Gaucher cells: lipid filled macrophages like tissue paper
- Tx: recombinant glucocerebrosidease
3
Q
Niemann-Pick disease
A
- Deficient Sphingomyelinase
- Sphingomyelin excess
- Progressive neurodegeneration
- HSM
- Cherry-red spot on macula
- Microcephaly, early death
- Foam cells
4
Q
Tay-Sachs disease
A
- Deficient Hexosaminidase A
- GM2 ganglioside excess
- Progressive neurodegeneration
- Cherry red spot on macula
- Lysosomes with onion skin
- NO HSM
- Early death
5
Q
Krabbe disease
A
- Deficient Galactocerebrosidase
- Galactocerebroside excess
- Peripheral neuropathy
- Developmental delay
- Optic Atrophy
6
Q
Metachromatic leukodystrophy
A
- Deficient Arylsulfatase A
- Cerebroside sulfate excess
- Central and peripheral demyelination w/ataxia, dementia
7
Q
Hurler syndrome
A
- Deficient a-L-iduronidase
- Heparan sulfate/Dermatan Sulfate excess
- Gargoylism
- Airway obstruction
- Corneal clouding
- HSM
- AR
8
Q
Hunter syndrome
A
- Deficient Iduronate sulfatase
- Heparan sulfate/Dermatan Sulfate excess
- Mild Hurler + aggression
- No corneal clouding
