Biochemistry (Misc) Flashcards

1
Q

What is 21-hydroxylase?

A

**Steroid 21-hydroxylase **is a cytochrome P450 enzyme

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2
Q

21-hydroxylase is a cytochrome P450 enzyme that is involved with the biosynthesis of ____.

A

the steroid hormones aldosterone and cortisol.

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3
Q

Full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor.

Diagnosis is?

A

PKU

(Phenylketonuria)

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4
Q

“Stressed executive comes home from work, consumes, 7 to 8 martinis in rapid succession before dinner, and becomes hypoglycemic.”

What is the biochemistry mechanism here?

A

NADH ↑↑ in the liver,

shunting pyruvate to lactate, and

OAA to malate,

thus preventing gluconeogenesis

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5
Q

2 y/o girl has ↑ in abdominal girth, failure to thrive, and skin and hair depigmentation.

What is the diagnosis?

A

Kwashiorkor

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6
Q

Pellagra is a deficiency of vitamin ___

A

B3

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7
Q

“51 y/o has black spots in his sclera and has noted that his urine turns black upon standing.”

What is diagnosis?

A

Alkaptonuria

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8
Q

“A woman complains of intense muscle cramps and darkened urine after exercise.

What is the diagnosis?

A

McArdle’s disease

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9
Q

If 2 parents, both with albinism, have a son who is normal, why is the son not affected?

A

locus heterogeneity

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10
Q
  1. What organs are very important for the absorption of fat-soluble vitamins?
  2. What can cause deficiency of fat soluble vitamins?
A
  1. ileum, pancreas
  2. malabsorption syndromes, mineral oil intake
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11
Q

List the function/role of each of the fat-soluble vitamins:

A
  • A - vision
  • D - bone calcification; calcium homeostasis
  • E - antioxidant
  • K - clotting factor
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12
Q

What molecule/biochemical is thiamine (B1) responsible for?

A

TPP

thiamine pyrophosphate

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13
Q

What molecule/biochemical is riboflavin (B2) responsible for?

A

FAD; FMN

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14
Q

What molecule/biochemical is niacin (B3) responsible for?

A

NAD+

NADP+

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15
Q
A
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16
Q

What molecule/biochemical is pantothenic acid (B5) responsible for?

A

CoA

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17
Q

What molecule/biochemical is pyridoxine (B6) responsible for?

A

pyridoxal pyrophosphate

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18
Q

Vitamin B3 is AKA:

A

Niacin

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19
Q

Vitamin B6 is AKA:

A

pyridoxine

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20
Q

Vitamin B7 is AKA:

A

Biotin

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21
Q

Vitamin B9 is AKA:

A

folate

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22
Q

Biotin is Vitamin B ___

A

7

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23
Q

Folate is Vitamin B __.

A

9

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24
Q

What molecule/biochemical is Vitamin B12 responsible for?

A

homocysteine methyltransferase

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25
Q

What molecule/biochemical is Vitamin B9 responsible for?

A

THF

tetrahydrofolate

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26
Q

What happens in B6 deficiency?

A

convulsions,

peripheral neuropathy

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27
Q

INH or oral contraception can be a problem with vitamin ___

A

B6

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28
Q

What medical problems can INH or oral contraceptives induce? (B6 deficiency)

A

hyperirritability

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29
Q

Which water-soluble vitamins are stored in the liver?

A

B12

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30
Q

What do B-complex deficiencies result in?

A

dermatitis,

glossitis,

diarrhea

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31
Q

How should we get our Vitamin A?

A

leafy vegetables

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32
Q

Vitamin A deficiency results in:

A

night blindness,

dry skin

33
Q

Too much Vitamin A leads to:

A

arthralgia,

sore throat,

alopecia,

fatigue

34
Q

Thiamine is AKA:

A

Vitamin B1

35
Q

What happens in Vitamin B1 deficiency?

A

Beriberi,

Wernicke-Korsakoff syndrome,

Wernicke encephalopathy

36
Q

What happens in dry beriberi?

A

polyneuritis,

muscle wasting

37
Q

What happens in wet beriberi?

A

high output cardiac failure,

edema

38
Q

What happens as a result of Vitamin B2 deficiency?

A

cheilosis,

angular stomatitis,

corneal vascularization

39
Q

The liver can synthesize niacin from the amino acid ___

A

tryptophan

40
Q

Vitamin B3 deficiency is AKA:

A

pellagra

41
Q

What can cause B3 deficiency?

A

Hartnup dz;

malignant carcinoid syndrome,

INH

42
Q

Why does Hartnup dz lead to B3 deficiency?

A

Hartnup dz ↓↓ absorption of tryptophan

43
Q

Why does malignant carcinoid syndrome lead to B3 deficiency ?

A

malignant carcinoid syndrome ↑↑ tryptophan metabolism

44
Q

Why can INH lead to B3 deficiency ?

A

Because isoniazid can lead to B6 deficiency

45
Q

What are the 3 D’s of pellagra?

A

Dementia,

Dermatitis,

Diarrhea

46
Q

What is the function of Vitamin B5?

A

constituent of CoA, and

a component of fatty acid synthase

47
Q

What can Vitamin B5 deficiency cause?

A

adrenal insufficiency,

alopecia,

dermatitis,

enteritis

48
Q

What is the function of Vitamin B6?

A

it’s converted to pyridoxal pyrophosphate (a cofactor in transamination, decarboxylation, heme synthesis)

49
Q

What is the cause of B12 deficiency?

A

pernicious anemia (no IF),

Crohn’s dz (no terminal ileum),

malabsorption

50
Q

What medical problems happen to people with B12 deficiency?

A
  • macrocytic anemia
  • megaloblastic anemia
  • neurological symptoms
  • glossitis
  • abnormal myelin
51
Q

a famous test for B12 deficiency is ____

A

the Schilling test

52
Q

The Schilling test is used for patients with a deficiency of vitamin ____.

A

B12

53
Q

The main syndrome of vitamin ___ deficiency is Biermer’s disease (pernicious anemia).

A

B12

54
Q

The main syndrome of vitamin B12 deficiency is ___ disease (pernicious anemia).

A

Biermer’s disease

55
Q

Another name for pernicious anemia is _____.

A

Biermer’s disease,

Addison’s anemia, or

Addison–Biermer anemia

56
Q

Biermer’s dz, or Addison–Biermer dz, is another name for:

A

pernicious anemia

57
Q

From where do we get our Vitamin B12?

A

Gut bacteria make B12.

Animals are Not capable of B12 synthesis.

58
Q

What are dietary sources of folate?

A

wide variety of foods, particularly dark green leafy vegetables

59
Q

**Pernicious anemia **is usually the result of insufficient secretion of ____.

A

intrinsic factor within the stomach

60
Q

In the body, what is the function/role of folate?

A

Folate is needed to carry one-carbon groups for methylation reactions, and nucleic acid synthesis (DNA and RNA)

61
Q

Vitamin _____ is the only acceptor of methyl-THF, and this reaction produces methylcobalamin. There is also only one acceptor for methylcobalamin, homocysteine, in a reaction catalyzed by homocysteine methyltransferase.

A

B12

62
Q

Vitamin B12 is the only acceptor of ____, and this reaction produces methyl-B12 (methylcobalamin).

A

methyl-THF

63
Q

Vitamin B12 is the only acceptor of methyl-THF, and this reaction produces ____.

A

methyl-B12 (methylcobalamin)

64
Q

Vitamin B12 is the only acceptor of methyl-THF, and this reaction produces methyl-B12 (methylcobalamin).

There is also only one acceptor for methyl-B12, namely ____, in a reaction that is catalyzed by ____.

A
  1. homocysteine
  2. homocysteine methyltransferase.
65
Q

____ is an intermediate in the synthesis of folate by bacteria, plants, and fungi. Humans lack the enzymes to convert ____ to folate.

A

PABA

66
Q

Humans lack the enzymes to convert PABA to Vitamin ____.

A

folate

67
Q

Patients with ____ need to be tested for vitamin B12 deficiency before folate treatment.

A

megaloblastic anemia

68
Q

Patients with megaloblastic anemia need to be tested for vitamin ___ deficiency before folate treatment.

A

B12

69
Q

Patients with megaloblastic anemia need to be tested for vitamin B12 deficiency before giving them ____ treatment, because if the patient has vitamin B12 deficiency, ___ supplementation can remove the anemia, but can also worsen neurologic problems.

A

folate

70
Q

In adults, ___ can be a sign of advanced folate deficiency.

A

macrocytic or megaloblastic anemia

71
Q

The most common vitamin deficiency in the US is ___ deficiency.

A

folate

72
Q

What is the function of Biotin?

A

Biotin is a **coenzyme **for carboxylase enzymes, involved in the synthesis of fatty acids, isoleucine, and valine, and in gluconeogenesis.

73
Q

List the carboxylation reactions that Biotin is involved with:

A

Pyruvate → OAA

Acetyl CoA → malonyl CoA

Propionyl CoA → methylmalonyl CoA

74
Q

What causes Biotin deficiency?

A

raw egg ingestion,

abx

75
Q

What problems can result from Biotin deficiency?

A

dermatitis,

conjunctivitis

alopecia

76
Q

Fcn of Vitamin C is:

A
  1. hydroxylation of proline and lysine in collagen synthesis
  2. facilitates iron absorption by keeping Fe 2+ reduced
  3. Cofactor for the dopamine → NE reaction
77
Q

What are the signs/symptoms of scurvy?

A

swollen gums, bruising, anemia, poor wound healing

78
Q

What does G6PD stand for?

A

Glucose-6-phosphate dehydrogenase