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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

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2
Q

Edema in Kwashiorkor is due to deficient this

A

Serum albumin and other serum proteins

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3
Q

Diet associated with Kwashiorkor

A

High carb but low protein = not calorie deficient

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4
Q

State of the liver in Kwashiorkor

A

Fatty liver

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5
Q

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

A

Marasmus

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6
Q

N balance in Marasmus

A

Negative

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7
Q

Protein-energy malnutrition (PEM) involving edema

A

Kwashiorkor

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8
Q

Protein-energy malnutrition (PEM) involving wasting

A

Marasmus

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9
Q

N balance in anorexia nervosa

A

Negative

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10
Q

Tyrosine becomes and essential amino acid in this condition

A

PhenylKetonUria (PKU)

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11
Q

Enzyme deficient in PKU

A

Phenylalanine hydroxylase

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12
Q

Why do PKU patients have albinism?

A

Tyrosine is used to make melanin

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13
Q

Unusual metabolites of Phenylalanine (phenylpyruvate, phenylacetate, phenyllactate) appear in the blood in this condition

A

PKU

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14
Q

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

A

Dihydropteridine reductase

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15
Q

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

A

Hartnup disease

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16
Q

Hartnup disease can lead to a deficiency in this

A

Niacin (since some is made from Trp)

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17
Q

Some niacin is made from this amino acid

A

Tryptophan

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18
Q

Tryptophan makes some of this vitamin

A

Niacin (B3)

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19
Q

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

A

Cystinuria

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20
Q

Dietary restriction of these 2 compounds for cystinuria

A

Cysteine and methionine

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21
Q

Excess of this molecule forms kidney stones

A

Cystine

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22
Q

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

A

Ubiquitin-proteasome system (UPS)

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23
Q

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

A

NH4+

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24
Q

Acquired hyperammonemia can be caused by this

A

Severe liver disease/dysfunction

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25
Q

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

A

Hepatic encephalopathy

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26
Q

Autosomal recessive congenital hyperammonemia that is the most common

A

Carbamoyl phosphate synthetase I deficiency

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27
Q

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

A

OTCase deficiency

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28
Q

Elevated orotic acid and ammonia are seen in this condition

A

Congenital hyperammonemia - OTCase deficiency

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29
Q

OTCase deficiency leads to these 2 compounds elevated

A

Orotic acid and Ammonia

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30
Q

Carbamoyl phosphate is involved in these 2 pathways

A

Urea cycle and Pyrimidine biosynthesis

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31
Q

Elevated orotic acid is seen in these two deficiencies

A

UMP synthase
OTCase

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32
Q

Maple Syrup Urine Disease is caused by deficiency of this

A

Branched chain alpha-ketoacid dehydrogenase

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33
Q

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

A

Maple Syrup Urine Disease

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34
Q

Maple syrup urine disease results in common problems of this system

A

Neurological
High mortality rate

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35
Q

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

A

Pellagra

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36
Q

Vitamin B3 is this

A

Niacin

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37
Q

Niacin is this vitamin

A

B3

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38
Q

Pellagra is what?

A

Severe niacin (B3) deficiency

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39
Q

Condition caused by deficiency of phenylalanine hydroxylase

A

PhenylKetonUria (PKU)

40
Q

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

A

PhenylKetonUria (PKU)

41
Q

Deficiency of Dihydropteridine reductase

A

Atypical PKU

42
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

43
Q

PhenylKetonUria (PKU) is caused by deficiency of this enzyme

A

Phenylalanine hydroxylase

44
Q

Atypical PKU is caused by deficiency of this enzyme

A

Dihydropteridine reductase

45
Q

3 enzymes that may be defective in Congenital hyperammonemia

A

CPS I
OTCase
Argininosuccinate lyase

46
Q

Alcaptonuria is caused by deficiency in this enzyme

A

Homogentisate oxidase

47
Q

Homogentisate is an intermediate formed from what?

A

Phe –> tyr –> homogentisate

48
Q

Darkened urine indicates high levels of this

A

Homogentisate

49
Q

Darkened urine and high levels of homogentisate indicate this condition

A

Alcaptonuria

50
Q

Condition caused by deficiency in cystathionase

A

Cystathioninuria

51
Q

Cystathioninuria is caused by deficiency in this enzyme

A

Cystathionase

52
Q

Homocystinuria is caused by deficiency in this enzyme

A

Cystathionine synthase

53
Q

Condition caused by deficiency in cystathionine synthase

A

Homocystinuria

54
Q

Homocytinuria has accumulation of this in the urine

A

Homocysteine

55
Q

Homocytinuria has accumulation of this in the blood

A

Methionine and its metabolites

56
Q

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

A

Cystathioninuria

57
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

58
Q

Elevated levels of methylmalonic acid occur from these 2 conditions

A

Methylmalonyl CoA mutase deficiency
B12 deficiency

59
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

60
Q

Condition caused by deficiency in histidase

A

Histidinemia

61
Q

Condition caused by deficiency in histidase
Elevated levels of histidine occur in blood and urine

A

Histidinemia

62
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

63
Q

Fumarylacetoacetate is an intermediate product of this

A

Phe –> Tyr –> Homogentisate –> Fumaryl acetoacetate

64
Q

Tyrosinemia is caused by deficiency in this enzyme

A

Fumaryl-acetoacetate hydrolase

65
Q

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

A

Phenylalanine and tyrosine

66
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

67
Q

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

A

Ca2+ oxalate kidney stones

68
Q

PLP is this vitamin

A

B6

69
Q

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

A

Pernicious anemia

70
Q

Pernicious anemia involves an inability to absorb this

A

B12

71
Q

Pernicious anemia involves an autoimmune reaction that destroys this

A

Intrinsic factor (which absorbs B12)

72
Q

3 characteristics of vitamin B12 deficiencies

A

Neurological damage
Megaloblastic anemia
Neural tube defects

73
Q

B12 deficiencies can result in this deficiency

A

Folate

74
Q

Condition associated with defective dopamine synthesis in the substantia nigra

A

Parkinson’s disease

75
Q

Treatment for Parkinson’s which crosses the blood brain barrier

A

DOPA (dihydroxyphenylalanine)

76
Q

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

A

DOPA decarboxylase inhibitor

77
Q

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

A

Adenosine deaminase deficiency

78
Q

Deficiency of this enzyme can cause SCID

A

Adenosine deaminase deficiency

79
Q

Adenosine deaminase deficiency can lead to inhibition of this other enzyme

A

Ribonucleotide reductase

80
Q

Adenosine deaminase deficiency leads to accumulation of this

A

dATP

81
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

82
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

83
Q

Lesch-Nyhan syndrome involves a deficiency of this

A

Hypoxanthine-guanine phosphoribosyl-transferase

84
Q

Lesch-Nyhan syndrome results in excessive production of this

A

Uric acid

85
Q

Hyperuricemia is a serum urate concentration above this amount

A

6.8 mg/dL

86
Q

Symptoms associated with the actual formation and deposit of urate crystals and the response of the body to crystals

A

GOUT

87
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

88
Q

Condition that develops after too much exposure to the sun

A

Actinic keratoses

89
Q

5-fluorouracil drug therapy can treat this

A

Actinic keratoses

90
Q

Condition caused by a defect in UMP synthase gene

A

hereditary orotic aciduria

91
Q

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

A

UMP synthase

92
Q

Condition characterized by darkened urine and dark ochronotic pigmentation of cartilage and collagenous tissue

A

Alcaptonuria

93
Q

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

A

Methylmalonyl CoA mutase deficiency

94
Q

Increased levels of branched chain alpha amino acids and their alpha-keto analogs in plasma and urine indicate this condition

A

Maple syrup urine disease

95
Q

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

A

Uridine

96
Q

Uridine gets converted to this, which inhibits CPS II

A

UTP

Conditions and drugs (8 decks)

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