Lysosomal Storage Disorders Flashcards
1
Q
Fabry’s Disease
A
- X-linked recessive
- a-galactosidase A deficiency
- accumulate ceramide trihexoside
- neruopathic pain
- Telangitiasias
- Renal failure
- Thrombotic events
2
Q
Krabbe Disease
A
- Galactosylceramide deficiency
- Accumulate galactocerebroside
- CNS degeneration
- Optic atrophy
- Spasticity
- Death by 3 yrs
3
Q
Gaucher’s Disease
A
- Glucocerebrosidase deficiency
- ‘Crinkled paper”
- Anemia
- Thrombocytopenia
- Normal life span
4
Q
Niemann-Pick
A
- Sphingomyelinase deficiency
- Cherry-red spots
- Hepatosplenomegally
5
Q
Tay-Saccs Disease
A
- Hexosaminidase deficiency
- Accumulate GH2 ganglioside
- Normal until 3-6mo
- weakness (progressive)
- Cherry red spot
( NO hepatosplenomeggaly –> diff from Neimann pick) - Jewish
6
Q
Metachromatic Leukodystrophy
A
- Arylsulfatasae A deficiency
- Demyelination –> ataxia & dementia
7
Q
Hurlers Synd.
A
- a-L-iduronidase deficiency
- Corneal Clouding
- Mental retardation
- Gargoylism
8
Q
Hunters Synd.
A
- Iduronate sulfatase deficiency
- Mental retardation
- Gargoylism
