Tutorials

Question 1

Which lysosomal storage disease occurs due to an accumulation of spingomyelin?

Answer 1

Niemann-Pick disease

Question 2

What causes Niemann-Pick disease?

Answer 2

defective or absent spingomyelinase

Question 3

What are symptoms of Niemann-Pick disease?

Answer 3

mental retardation, clumsy, dystonia, sleep disturbances

Question 4

How can we treat Niemann-Pick disease?

Answer 4

no effective therapy available

Question 5

Which lysosomal storage disease occurs due to an accumulation of partially digested ganglioside?

Answer 5

Tay-Sachs disease

Question 6

What causes Tay-Sachs disease?

Answer 6

defect in lysosomal enzyme that degrades sphingolipids

Question 7

What are symptoms of Tay-Sachs disease?

Answer 7

visual difficulty that can progress to neurologic diseases

Question 8

How can we treat Tay-Sachs disease?

Answer 8

no effective therapy (BBB blocks enzyme)

Question 9

Which lysosomal storage disease occurs due to an accumulation of glycogen particles in lysosomes?

Answer 9

Pompe disease

Question 10

What causes Pompe disease?

Answer 10

defect in the degradation of glycogen

Question 11

What are some symptoms of Pompe disease?

Answer 11

infant: metal retardation, cardiomegaly
adult: gradual skeletal myopathy

Question 12

How can we treat Pompe disease?

Answer 12

enzyme replacement therapy

Question 13

Which lysosomal storage disease occurs due to an accumulation of indigestible material in lysosomes?

Answer 13

I-cell disease (mucolipidosis)

Question 14

What causes I-cell disease?

Answer 14

a deficiency of the phosphotransferase which helps to tag specific proteins to be eaten by lysosomes

Question 15

What are some symptoms of I-cell disease?

Answer 15

psychomotor retardation

Question 16

How can we treat I-cell disease?

Answer 16

no known cure (bone marrow transplant to support)

Question 17

What abnormal hemoglobin causes sickle cell disease?

Answer 17

hemoglobin S (HbS)

Question 18

How long do sickle cells last?

Answer 18

10-20 days

Question 19

On what gene is there a mutation, causing sickle cell disease?

Answer 19

HBB gene (hemoglobin beta)

Question 20

What do sickle cells cause in the blood?

Answer 20

blocks blood flow (ischemia) or contains low levels of oxygen (hypoxia)

Question 21

What is the increased red cell destruction in the spleen and an inability of the liver to conjugate all of the bilirubin?

Answer 21

cholecystitis (leading to jaundice)

Question 22

When do we use penicillin treatment?

Answer 22

to anyone who has had a surgical removal of the spleen or past infection with pneumonia

Question 23

What treatment increases hemoglobin F (provides protection from hemoglobin S)?

Answer 23

hydroxyurea

Question 24

What causes Ehler’s Danlos syndrome?

Answer 24

mutations in genes of COLLAGEN 5

Question 25

What causes osteogenesis imperfecta?

Answer 25

mutations in genes of COLLAGEN 1

Question 26

What are symptoms of scurvy?

Answer 26

bone pain, skin hemorrhages (incl perifollicuar hemorrhages)

Question 27

How can we treat EDS and osteogenesis imperfecta?

Answer 27

no known cure