Flashcards in MCP - Goodman - Complex Lipids Deck (9)
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1
What disease results in:
cherry red macula
blindness
seizures
fatal neurodegeneration
Tay-Sachs Disease
Accumulation of gangliosides
Deficiency of activator protein
2
Accumulation of gangliosides (GM1) and keratin sulfate, and a deficiency in beta-galactosidase is known as:
Gangliosidosis
Neurologic deterioration
cherry red macula
skeletal deformities
hepatosplenomegaly
3
What is Gaucher disease?
Deficiency in beta-glucosidase
Accumulation of glucocerebrosides
most common lysosomal storage disease
hepatosplenomegaly
osteoporosis of long bones
4
Sandhoff disease results from accumulation of what substrate?
substrate: globosides
deficiency in beta-hexoaminidase
same symptoms as Tay-Sachs, but with visceral involvement as well
5
Metachromatic Leukodystrophy results from deficiency of what enzyme?
Deficiency of glucosidase or activator protein
Accumulation of sulfatides
cognitive deterioration
demyelination
progressive paralysis
6
Accumulation of galactocerebrosides that results in mental and motor deterioration, blindness and deafness, and near total demyelination is known as:
Krabbe Disease aka Globoid Cell Leukodystrophy
Deficiency in galactocerebrosidase
7
What is Farber Disease?
Accumulation of ceramide due to deficiency in ceraminidase
painful and progressive joint deformity
subcutaneous nodules of lipid cells
hoarse cry
granulomas in tissues
8
Deficiency in sphyingomyelinase is known as:
Neimann-Pick Disease
Accumulation of sphingomyelin
hepatosplenomegaly
neurogegenerative
cherry-red macula
9
