Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MF1 Conditions and drugs > Conditions Q6 > Flashcards

Conditions Q6 Flashcards

1
Q

Protein-energy malnutrition (PEM) involving a high carb but low protein diet

A

Kwashiorkor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Edema in Kwashiorkor is due to deficient this

A

Serum albumin and other serum proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Diet associated with Kwashiorkor

A

High carb but low protein = not calorie deficient

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

State of the liver in Kwashiorkor

A

Fatty liver

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Protein-energy malnutrition (PEM) caused by undernourishment; deficient in calories and energy

A

Marasmus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Protein-energy malnutrition (PEM) involving edema

A

Kwashiorkor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Protein-energy malnutrition (PEM) involving wasting

A

Marasmus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Tyrosine becomes and essential amino acid in this condition

A

PhenylKetonUria (PKU)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Enzyme deficient in PKU

A

Phenylalanine hydroxylase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Why do PKU patients have albinism?

A

Tyrosine is used to make melanin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Atypical PKU is rare and due to a deficiency in this enzyme

A

Dihydropteridine reductase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Disease caused by defective transport system for large neutral amino acids like Trp
Can lead to niacin deficiency
Involves proteinuria

A

Hartnup disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Hartnup disease can lead to a deficiency in this

A

Niacin (since some is made from Trp)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Some niacin is made from this amino acid

A

Tryptophan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Tryptophan makes some of this vitamin

A

Niacin (B3)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Condition caused by defective transport of lys, arg, ornithine and cystine

A

Cystinuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Dietary restriction of these 2 compounds for cystinuria

A

Cysteine and methionine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Excess of this molecule forms kidney stones

A

Cystine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Hungtinton’s, Alzheimer’s, Oncogenesis, aging and lysosomal storage diseases involve a functional inadequacy in this

A

Ubiquitin-proteasome system (UPS)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Glutamine and glycine are high in the blood when this is high

A

NH4+

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Acquired hyperammonemia can be caused by this

A

Severe liver disease/dysfunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Acquired hyperammonia compromises the liver’s ability to metabolize toxins and xenobiotics, leading to this

A

Hepatic encephalopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Autosomal recessive congenital hyperammonemia that is the most common

A

Carbamoyl phosphate synthetase I deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

X-linked congenital hyperammonemia that involves excessive orotic acid in the urine

A

OTCase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Elevated orotic acid and ammonia are seen in this condition

A

Congenital hyperammonemia - OTCase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

OTCase deficiency leads to these 2 compounds elevated

A

Orotic acid and Ammonia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Carbamoyl phosphate is involved in these 2 pathways

A

Urea cycle and Pyrimidine biosynthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Elevated orotic acid is seen in these two deficiencies

A

UMP synthase
OTCase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Maple Syrup Urine Disease is caused by deficiency of this

A

Branched chain alpha-ketoacid dehydrogenase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Condition caused by deficiency of the branched chain alpha-ketoacid dehydrogenase

A

Maple Syrup Urine Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Severe niacin (B3) deficiency
Skin, GI tract, CNS involvement
Dermatitis, diarrhea, dementia

A

Pellagra

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Vitamin B3 is this

A

Niacin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Niacin is this vitamin

A

B3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Pellagra is what?

A

Severe niacin (B3) deficiency

35
Q

Condition caused by deficiency of phenylalanine hydroxylase

A

PhenylKetonUria (PKU)

36
Q

Albinism can be seen in this condition due to lack of tyrosine

A

PhenylKetonUria (PKU)

37
Q

Deficiency of Dihydropteridine reductase

A

Atypical PKU

38
Q

Condition caused by defective homogentisate oxidase
Urine darkens on standing as homogentisate is oxidized and polymerized to a melanin-like substance, especially in light
Symptoms: homogenstitic aciduria, arthritis (especially of the spine) that gets worse over time, dark ochronotic pigmentation of cartilage and collagenous tissue
Treatment: low protein diet (phe/tyr); some may benefit from high dose vit C

A

Alcaptonuria

39
Q

Alcaptonuria is caused by deficiency in this enzyme

A

Homogentisate oxidase

40
Q

Homogentisate is an intermediate formed from what?

A

Phe –> tyr –> homogentisate

41
Q

Darkened urine indicates high levels of this

A

Homogentisate

42
Q

Darkened urine and high levels of homogentisate indicate this condition

A

Alcaptonuria

43
Q

Condition caused by deficiency in cystathionase

A

Cystathioninuria

44
Q

Cystathioninuria is caused by deficiency in this enzyme

A

Cystathionase

45
Q

Homocystinuria is caused by deficiency in this enzyme

A

Cystathionine synthase

46
Q

Condition caused by deficiency in cystathionine synthase

A

Homocystinuria

47
Q

Homocytinuria has accumulation of this in the urine

A

Homocysteine

48
Q

Homocytinuria has accumulation of this in the blood

A

Methionine and its metabolites

49
Q

Which of these two has no clinical symptoms?
Cystathioninuria or homocystinuria

A

Cystathioninuria

50
Q

Which of the following results in Mental retardation, osteoporosis, myocardial infarction, and a characteristic dislocation of the lens occur?
Cystathioninuria or homocystinuria

A

Homocystinuria

51
Q

Elevated levels of methylmalonic acid occur from these 2 conditions

A

Methylmalonyl CoA mutase deficiency
B12 deficiency

52
Q

Both B12 deficiency and Methylmalonyl CoA mutase deficiency would involve elevated methylmalonic acid, but what is the key difference?

A

B12 deficiency would also have megaloblastic anemia

53
Q

Condition caused by deficiency in fumaryl-acetoacetate hydrolase
Accumulation of fumarylacetoacetate and its metabolites, particularly succinyl-acetone, in the urine

A

Tyrosinemia type I

54
Q

Fumarylacetoacetate is an intermediate product of this

A

Phe –> Tyr –> Homogentisate –> Fumaryl acetoacetate

55
Q

Tyrosinemia is caused by deficiency in this enzyme

A

Fumaryl-acetoacetate hydrolase

56
Q

Dietary restriction of these amino acids is used to treat Tyrosinemia type I

A

Phenylalanine and tyrosine

57
Q

Condition caused by transaminase deficiency in glycine metabolism
Renal failure due to excessive Ca2+ oxalate kidney stones (most common type of stones)

A

Primary oxaluria type 1

58
Q

Primary oxaluria type 1 results in renal failure due to excessive amounts of this

A

Ca2+ oxalate kidney stones

59
Q

PLP is this vitamin

A

B6

60
Q

Condition where autoimmune reaction leads to destruction of intrinsic factor, and hence an inability to absorb (or reabsorb) dietary B12

A

Pernicious anemia

61
Q

Pernicious anemia involves an inability to absorb this

A

B12

62
Q

Pernicious anemia involves an autoimmune reaction that destroys this

A

Intrinsic factor (which absorbs B12)

63
Q

3 characteristics of vitamin B12 deficiencies

A

Neurological damage
Megaloblastic anemia
Neural tube defects

64
Q

B12 deficiencies can result in this deficiency

A

Folate

65
Q

Condition associated with defective dopamine synthesis in the substantia nigra

A

Parkinson’s disease

66
Q

Treatment for Parkinson’s which crosses the blood brain barrier

A

DOPA (dihydroxyphenylalanine)

67
Q

Treatment for Parkinson’s which does not cross the blood brain barrier

A

DOPA decarboxylase inhibitor

68
Q

Autosomal condition that results in accumulation of adenosine and deoxyadenosine
Accumulation of dATP inhibits ribonucleotide reductase

A

Adenosine deaminase deficiency

69
Q

Deficiency of this enzyme can cause SCID

A

Adenosine deaminase deficiency

70
Q

Adenosine deaminase deficiency can lead to inhibition of this other enzyme

A

Ribonucleotide reductase

71
Q

Adenosine deaminase deficiency leads to accumulation of this

A

dATP

72
Q

X-linked recessive condition caused by deficiency of hypoxanthine-guanine phosphoribosyl-transferase
Inability to salvage hypoxanthine or guanine
Results in increased levels of PRPP and decreased levels of IMP and GMP, causing increased de novo purine synthesis
Results in the excessive production of uric acid, plus characteristic neurological features, including self-mutilation and involuntary movements

A

Lesch-Nyhan Syndrome

73
Q

Condition that results in the excessive production of uric acid, plus characteristic neurological features, including self-mutilation and involuntary movements

A

Lesch-Nyhan Syndrome

74
Q

Lesch-Nyhan syndrome involves a deficiency of this

A

Hypoxanthine-guanine phosphoribosyl-transferase

75
Q

Lesch-Nyhan syndrome results in excessive production of this

A

Uric acid

76
Q

Condition characterized by hyperuricemia (from underexcretion of uric acid) with recurrent attacks of acute arthritic joint inflammation, caused by deposition of mono-sodium urate crystals

A

GOUT

77
Q

Condition that develops after too much exposure to the sun

A

Actinic keratoses

78
Q

5-fluorouracil drug therapy can treat this

A

Actinic keratoses

79
Q

Condition caused by a defect in UMP synthase gene

A

hereditary orotic aciduria

80
Q

Hereditary orotic aciduria is caused by a defect in the gene for this enzyme

A

UMP synthase

81
Q

Elevated levels of methylmalonyl acid occur in the blood in this enzyme deficiency

A

Methylmalonyl CoA mutase deficiency

82
Q

Administration of this is used in treatment of hereditary orotic aciduria to decrease anemia and orotic acid build up

A

Uridine

83
Q

Uridine gets converted to this, which inhibits CPS II and treats hereditary orotic aciduria

A

UTP

MF1 Conditions and drugs (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions