MCP - Goodman - Complex Lipids Flashcards Preview

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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

What X-linked disease results in the accumulation of globosides?

Fabry Disease
Deficiency in alpha-galactosidase
skin rash
kidney and heart failure
burning in lower extremities