Complex Lipid Synthesis Membrane Degradation Diseases

Question 1

What is Tay-Sachs Disease?

Answer 1

Accumulation of GM2

Question 2

What is Gaucher’s Disease?

Answer 2

Build up of ceramide

Question 3

What is Sandhoff’s Disease?

Answer 3

Globoside build up

Question 4

What is Fabry’s Disease?

Answer 4

Abnormal deposits in blood vessels

Question 5

Symptoms of Tay-Sachs Disease

Answer 5

Nerve damage begins in utero with symptoms appearing 12 to 24 weeks; dead before 5 years old

Question 6

Symptoms of Gaucher’s Disease

Answer 6

Ceramide buildup in spleen, liver and bone causing fractures and clotting difficulties

Question 7

Symptoms of Sandhoff’s Disease

Answer 7

Globoside buildup destroys nerve cells in brain and spinal cord; normal to 3-6 months and then motor skills slow and progress to loss of hearing and vision and paralysis

Question 8

Symptoms of Fabry’s Disease

Answer 8

Symptoms occurring end of childhood and include burning sensation of hands and abnormal deposits in blood vessel walls leading to impaired arterial circulation and enlarged heart

Question 9

Cherry-red eye spot is seen in which diseases?

Answer 9

Niemann-Picks and Tay-Sachs disease

Question 10

What is Niemann-Picks Disease?

Answer 10

Buildup of sphingomyelin 3 types of the disease

Question 11

Symptoms of Niemann-Picks Disease?

Answer 11

Type A: absence of sphingomyelinase death by 4
Type B: 90% reduction in sphingomyleinase no neurological problems just enlarged organs can live into adulthood
Type C: inappropriate storage of cholesterol in the lysosomes leading to decreased sphingomyleinase activty