MCP - Goodman - Complex Lipids Flashcards

1
Q
What disease results in:
cherry red macula
blindness
seizures
fatal neurodegeneration
A

Tay-Sachs Disease
Accumulation of gangliosides
Deficiency of activator protein

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2
Q

Accumulation of gangliosides (GM1) and keratin sulfate, and a deficiency in beta-galactosidase is known as:

A
Gangliosidosis
Neurologic deterioration
cherry red macula
skeletal deformities
hepatosplenomegaly
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3
Q

What is Gaucher disease?

A
Deficiency in beta-glucosidase
Accumulation of glucocerebrosides
most common lysosomal storage disease
hepatosplenomegaly
osteoporosis of long bones
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4
Q

Sandhoff disease results from accumulation of what substrate?

A

substrate: globosides
deficiency in beta-hexoaminidase
same symptoms as Tay-Sachs, but with visceral involvement as well

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5
Q

Metachromatic Leukodystrophy results from deficiency of what enzyme?

A
Deficiency of glucosidase or activator protein
Accumulation of sulfatides
cognitive deterioration
demyelination
progressive paralysis
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6
Q

Accumulation of galactocerebrosides that results in mental and motor deterioration, blindness and deafness, and near total demyelination is known as:

A

Krabbe Disease aka Globoid Cell Leukodystrophy

Deficiency in galactocerebrosidase

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7
Q

What is Farber Disease?

A
Accumulation of ceramide due to deficiency in ceraminidase
painful and progressive joint deformity
subcutaneous nodules of lipid cells
hoarse cry
granulomas in tissues
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8
Q

Deficiency in sphyingomyelinase is known as:

A
Neimann-Pick Disease
Accumulation of sphingomyelin
hepatosplenomegaly
neurogegenerative
cherry-red macula
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9
Q

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

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