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biochem midterm > Tutorials > Flashcards

Tutorials Flashcards

1
Q

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

A

Niemann-Pick disease

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2
Q

What causes Niemann-Pick disease?

A

defective or absent spingomyelinase

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3
Q

What are symptoms of Niemann-Pick disease?

A

mental retardation, clumsy, dystonia, sleep disturbances

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4
Q

How can we treat Niemann-Pick disease?

A

no effective therapy available

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5
Q

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

A

Tay-Sachs disease

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6
Q

What causes Tay-Sachs disease?

A

defect in lysosomal enzyme that degrades sphingolipids

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7
Q

What are symptoms of Tay-Sachs disease?

A

visual difficulty that can progress to neurologic diseases

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8
Q

How can we treat Tay-Sachs disease?

A

no effective therapy (BBB blocks enzyme)

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9
Q

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

A

Pompe disease

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10
Q

What causes Pompe disease?

A

defect in the degradation of glycogen

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11
Q

What are some symptoms of Pompe disease?

A

infant: metal retardation, cardiomegaly
adult: gradual skeletal myopathy

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12
Q

How can we treat Pompe disease?

A

enzyme replacement therapy

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13
Q

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

A

I-cell disease (mucolipidosis)

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14
Q

What causes I-cell disease?

A

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

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15
Q

What are some symptoms of I-cell disease?

A

psychomotor retardation

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16
Q

How can we treat I-cell disease?

A

no known cure (bone marrow transplant to support)

17
Q

What abnormal hemoglobin causes sickle cell disease?

A

hemoglobin S (HbS)

18
Q

How long do sickle cells last?

A

10-20 days

19
Q

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

A

HBB gene (hemoglobin beta)

20
Q

What do sickle cells cause in the blood?

A

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

21
Q

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

A

cholecystitis (leading to jaundice)

22
Q

When do we use penicillin treatment?

A

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

23
Q

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

A

hydroxyurea

24
Q

What causes Ehler’s Danlos syndrome?

A

mutations in genes of COLLAGEN 5

25
Q

What causes osteogenesis imperfecta?

A

mutations in genes of COLLAGEN 1

26
Q

What are symptoms of scurvy?

A

bone pain, skin hemorrhages (incl perifollicuar hemorrhages)

27
Q

How can we treat EDS and osteogenesis imperfecta?

A

no known cure

biochem midterm (9 decks)

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