7-16 Complex Lipids in Health and Disease Flashcards
1
Q
Tay-Sachs Disease
A
- Accumulation of gangliosides (GM2)
- b-Hexoaminidase A defective
- Fatal neurodegen, blindness, muscular weakness, seizures
2
Q
Gaucher DIsease
A
- Accumulation of glucocerebrosides
- b- Glucosidase defective
- Most common lysosomal storage disease, osteoprosis
3
Q
Metachromatic Leukodystrophy
A
- Accumulation of sulfatides
- Arylsulfatase defective
- Cognitive deteriorationm demyleination, paralysis
4
Q
Krabbe Disease
A
- Accumulation of galactocerebrosides
- b-Galactosidase defective
- mental/motor deterioration, blindness/deafness, loss of myselin
5
Q
GM1 Gangliosidosis
A
- Accumulation of gangliosides
- b- Galactosidase defective
- Neuro degen, hepatosplenomegaly, skeletal deformity
6
Q
Sandhoff Disease
A
- Accumulation of GM2
- b- Hexosaminidase
- symptoms like Tay Sachs
