Complex lipids diseases Flashcards
1
Q
Tay Sachs
A
- Deficiency of B-hexosaminidase A
- Accumulation of gangliosides
- Neurodegeneration, muscular weakness, cherry red macula, seizures
2
Q
Gangliosidosis
A
- Deficiency of B-Galactosidase
- Accumulation of gangliosides
- Neurodegeneration, hepatosplenomegaly
3
Q
Gaucher disease
A
- Deficiency of B-Glucosidase (glucocerebrosidase)
- Accumulation of glucocerebrosides
- Most common lysosomal storage disease
- Hepatosplenomegaly, osteoporosis of long bones, CNS involvement
4
Q
Sandhoff disease
A
- Deficiency in B-Hexosaminidase A and B
- Accumulation of GM2 and some globosides
- Same as tay sachs but visceral involvement too
5
Q
Fabry disease
A
- X linked
- Deficiency in alpha-galactosidase
- Accumulation of globosides
- Red-purple skin rash
- Kidney and heart failure
- Burning pain in lower extremities
6
Q
Niemann Pick Disease
A
- Deficiency of Spingomyelinase
- Accumulation of sphingomyelin
- Hepatosplenomegaly
- Neurodegenerative course
- Cherry red macula
7
Q
Farber disease
A
- Deficiency in ceraminidase
- Accumulation of ceramide
- Joint deformity
- Nodules of lipid-laden cells
- Hoarse cry
- Granulomas
8
Q
Krabbe Disease (Globoid cell leukodystrophy)
A
- Deficiency in B-galactosidase
- Accumulation of galactocerebrosides
- Mental and motor deterioration
- Blindness and deafness
- Near total loss of myelin
- Globoid bodies in white matter
9
Q
Metachromatic leukodystrophy
A
- Deficiency in arylsulfatase
- Accumulation of sulfatides
- Cognitive deterioration
- Demyelination
- Paralysis and dementia
