MCP - Goodman - Complex Lipids

Question 1

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

Answer 1

Tay-Sachs Disease
Accumulation of gangliosides
Deficiency of activator protein

Question 2

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

Answer 2

Gangliosidosis
Neurologic deterioration
cherry red macula
skeletal deformities
hepatosplenomegaly

Question 3

What is Gaucher disease?

Answer 3

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

Question 4

Sandhoff disease results from accumulation of what substrate?

Answer 4

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

Question 5

Metachromatic Leukodystrophy results from deficiency of what enzyme?

Answer 5

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

Question 6

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

Answer 6

Krabbe Disease aka Globoid Cell Leukodystrophy

Deficiency in galactocerebrosidase

Question 7

What is Farber Disease?

Answer 7

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

Question 8

Deficiency in sphyingomyelinase is known as:

Answer 8

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

Question 9

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

Answer 9

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