Test 1-3: Biochemistry Flashcards

1
Q

Synchronization of glycogen degradation with skeletal muscles contraction occurs due to what

A

release of sarcoplasmic calcium following neuromuscular stimulation

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2
Q

Increased intracellular calcium in skeletal muscles activates what

A

phosphorylase kinase: stimulating glycogen phosphorylase to increase glycogenolysis

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3
Q

Glycogen is broken down by what enzyme

A

glycogen phosphorylase

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4
Q

What enzyme is responsible for phosphorylation of glycogen phosphorylase

A

Phosphorylase kinase

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5
Q

what catalyzes dephosophrylation of glycogen phosphorylase

A

phosphoprotein phosphatase

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6
Q

How is phosphorylase kinase activated in the liver?

A
  1. Epinephrine and glucagon

2. increases [cAMP]

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7
Q

What are 2 ways skeletal muscles activates phosphorylase kinase

A
  1. Epinephrine-induced increase in cAMP

2. Increase intracellular calcium

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8
Q

Release of sarcoplasmic calcium allows for the synchronization of what?

A
  1. skeletal muscle contraction

2. glycogen breakdown

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9
Q

What can be beneficial in the treatment of measles infections by reducing comorbidites, recovery time, and length of hospital stays?

A

Vitamin A

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10
Q

Pyridoxine

A

B6

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11
Q

Cobalamin

A

Vitamin B12

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12
Q

Most common urea cycle disorder

A

Ornithine transcarbamylase deficiency

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13
Q

how is ornithine transcarbamylase deficiency inherited

A

X-linked recessive

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14
Q

What is found in the the system of an ornithine transcarbamylase deficiency patient? they have symptoms of what?

A
  • increased orotic acid in blood and urine
  • decrease BUN
  • hyperammonemia
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15
Q

Why is there increased orotic acid in blood and urine for ornithine transcarbamylase

A

excess carbamoyl phosphate is converted to orotic acid

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16
Q

what is the rate limiting enzyme in the urea cycle

A

Carbamoyl phosphate synthetase I

- convertes bicarb, ammonia and ATP to carbamoyl phosphate

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17
Q

What acts as the regulator of the urea cycle through activation of carbamoyl phosphate synthetase I

A

N-acetylglutamate

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18
Q

What are some symptoms for hyperammonemia

A

episodes of vomiting, and confusion/coma

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19
Q

tachypnea

A

rapid breathing

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20
Q

What is the problem in orotic aciduria

A

uridine monophosphate synthetase deficiency

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21
Q

Which one has megaloblastic anemia: ornithine transcarbamylase deficiency or orotic aciduria

A

orotic aciduria

22
Q

Which one has hyper ammonia: ornithine transcarbamylase deficiency or orotic aciduira

A

ornithine transcarbamylase deficiency

23
Q

Bloom syndrome: what is the problem

A

mutations in BLM gene encoding DNA helicase

24
Q

How do Bloom syndrome patients present

A
  • growth retardation
  • facial anomalies
  • photosenstive skin rash
  • immunodeficiency
25
Q

Thiamine is a cofactor for what 3 things

A
  1. pyruvate dehydrogenase
  2. alpha-ketoglutarate dehydrogenase
  3. transketolase
26
Q

Administration of glucose to thiamine deficient patients can results in

A

Wernicke encephalopathy due to increased thiamine demand

27
Q

Metabolism of alcohol increases what ratio

A

NADH/NAD+

28
Q

In setting of Wernicke encephalopathy, thiamine-dependent enzymes are especially affected due to the fact of what factors

A
  1. NAD+ ( required for TCA)

2. thiamine

29
Q

In addition to lowering blood glucose, insulin increases glycogen synthesis in hepatocytes by activating what enzyme

A

Protein phosphatase

30
Q

What receptor can activates protein phosphatase

A

Tyrosine kinase dimer receptor, with insulin

31
Q

Southern blotting is used to detect

A

DNA mutations

32
Q

Familial hypercholesterolemia is defective in what

A

Absent or defective LDL receptors

33
Q

Familial hypercholesterolemia is inherited how

A

autosomal dominant

34
Q

What is telomerase? What does it to

A
  • Reverse transcriptase ( RNA-dependent DNA polymerase)

- lengthens telomeres by adding TTAGGG repeats to 3’ of chromosomes

35
Q

What type of cells have long telomeres

A

Stem cells

- high telomerase activity

36
Q

What serves as a source of glucose during fasting and as an energy store that can be mobilized quickly during strenuous muscle

A

glycogen

37
Q

What are the glycogen storage disease

A

Very Poor Carbohydrate Metabolism

  • Von Gierke
  • Pompe
  • Cori
  • McArdle
38
Q

Who is someone with muscle cramps, myoglobinuria ( red urine) with strenuous exercise, and arrhythmia form electrolyte abnormalities

A

McArdle disease

39
Q

What enzyme is deficient in McArdle disease

A
  • skeletal muscle glycogen phosphorylase

- Myophosphorylase

40
Q

Increased frequency in patients with activating mutations involving Phosphoribosyl pyrophosphate syntheses leads to what

A

gout

41
Q

What is the first line therapy for treating acute gouty arthritis

A

NSAIDS

- inhibits neutrophils

42
Q

What is the second lune of therapy for acute gout

A

Colchicine

43
Q

MOA for Colchicine

A
  • binds ands stabilizes tubulin to inhibit microtubule polymerization
  • impairing neutrophil chemotaxis and degranulation
44
Q

What are symptoms for dry Beriber

A
  • symmetrical peripheral neuropathy

- polyneuritis

45
Q

What are symptoms for wet beriberi

A
  • high output cardiac failure (cardiomyopathy)

- edema

46
Q

hemorrhage and necrosis in the mammillary bodies and periaqueductal gray matter are found in what problem

A

Wernicke-Korsakaff syndrome

47
Q

Activity of what can diagnosed thiamine deficiency

A
  • baseline erythrocyte transketolase activity is low

- but then increases after addition of thiamine pyrophosphate

48
Q

Protoporphyrin is a precursor for what

A

heme

49
Q

What is the rate-limiting step in pentose phosphate pathway

A

Erythrocyte glucose-6-phosphate dehydrogenase

50
Q

When do you see methylmalonic acid levels increased

A

Vitamin B12 deficiency

51
Q

55-year old farmer: pupils are symmetric, 2mm, and reactive to light. Eyes are tearing considerably. Scattered wheezes bilaterally on lung auscultation . Skin is clammy and he is sweating profusely? toxicity ?

A

Organophosphates

- used in pesticides in agriculture

52
Q

MOA for organophosphates

A
  • inhibit breakdown of acetylcholine