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AUB LEC MIDTERM > Urine screening > Flashcards

Urine screening Flashcards

1
Q

Result from the disruption of a normal metabolic pathway that
causes increased plasma concentrations of the
nonmetabolized substances

A

Overflow disorder

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2
Q

caused by malfunctions in the tubular reabsorption mechanism

A

Renal Disorder

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3
Q

failure to
inherit the gene to
produce a particular
enzyme

A

Inborn Error of Metabolism

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4
Q

Abnormal Metabolic Constituents or
Conditions Detected in the Routine Urinalysis

color:

A

Homogentisic acid
Melanin
Indican
Porphyrins

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5
Q

Abnormal Metabolic Constituents or
Conditions Detected in the Routine Urinalysis

odor:

A

Phenylketonuria
Maple syrup urine
disease
Isovaleric acidemia
Cystinuria
Cystinosis
Homocystinuria

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6
Q

Abnormal Metabolic Constituents or
Conditions Detected in the Routine Urinalysis

crystal:

A

Cystine
Leucine
Tyrosine
Lesch-Nyhan
disease

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7
Q

Amino Acid Disorders with Urinary Screening Tests

A

Phenylketonuria (PKU)
Tyrosyluria
Alkaptonuria
Melanuria
Maple Syrup Urine Disease
Organic acidemias
Indicanuria
Cystinuria
Cystinosis

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8
Q

Phenylketonuria known as

A

aminoacidurias

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9
Q

results in severe mental retardation if undetected

A

Phenylketonuria

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10
Q

urine odor of phenylketonuria

A

Peculiar mousy

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11
Q

Ivan Følling

A

Phenylketonuria

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12
Q

caused by failure to inherit the gene to produce the enzyme
phenylalanine hydroxylase

A

Phenylketonuria

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13
Q

Tests for Phenylketonuria

A

Phenylalanine
Blood Level
Phenylpyruvic
acid Urine Test
Guthrie’s
microbial
inhibition
assay

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14
Q

Accumulation of excess tyrosine in the plasma producing
urinary overflow

A

Tyrosyluria/Tyrosinemia

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15
Q

urine metabolities of tyrosyluria

A

p-hydroxyphenylpyruvic acid
p-hydroxyphenyllactic acid

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16
Q

seen in premature infants

underdevelopment of the liver function to produce enzyme for tyrosine
metabolism

A

transitory tyrosinemia

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17
Q

result in mental retardation if dietary restrictions of
phenylalanine and tyrosine are not implemented

A

Type 3 - p-hydroxyphenylpyruvic acid
dioxygenase

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18
Q

Produces a generalized renal tubular disorder and
progressive liver failure in infants soon after birth

A

Type 1 - Fumarylacetoacetate
hydrolase (FAH)

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19
Q

Persons develop corneal erosion and lesions on the
palms, fingers, and soles of the feet believed to be
caused by crystallization of tyrosine in the cells

A

Type 2 - tyrosine aminotransferase

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20
Q

darkening of urine after exposure to air

A

Melanuria

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21
Q

indicates the overproliferation of the normal melanin producing cells
producing a malignant melanoma.

A

Melanuria

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22
Q

Deficient production of melanin

A

albinism

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23
Q

Test for Melanuria

A
  • Ferric Chloride Tube
    Test
  • Sodium
    Nitroprusside test
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24
Q

Alkaptonuria also known as

A

Alkali lover

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25
Q

third major defect in the
phenylalanine-tyrosine pathway and
occurs from failure to inherit the
gene to produce the enzyme
homogentisic acid oxidase

A

Alkaptonuria

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26
Q

Who described alkaptonuria?

A

Garrod

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27
Q

Test for Alkaptonuria

A
  • FeCl3 Test
  • clinitest
  • Urinary
    Homogentisic Acid
    Test
  • Ammoniacal Silver
    Nitrate Test
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28
Q

Differ from other amino acidsby having a
methyl group that branches from the main
aliphatic carbon chain

A

BRANCHED- CHAIN AMINO ACID DISORDER

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29
Q

2 MAJOR GROUPS OF DISORDERS OF BRANCHED- CHAIN AMINO ACID DISORDER

A

Maple Syrup Urine Disease (MSUD)
Organic Acidemia

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30
Q

The amino acids involved are leucine,isoleucine, and valine

A

Maple Syrup Urine Disease

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31
Q

Who discovered maple syrup urine disease

A

Menke

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32
Q

odor of Organic Acidemias

A

Sweaty feet odor of
urine

33
Q

Blue diaper syndrome

A

TRYPTOPHAN DISORDERS
Indicanuria

34
Q

increased amounts of tryptophan are converted to indole

A

Hartnup
disease

35
Q

Can cause renal calculi formations in early lif

A

Cystinuria

36
Q

reabsorption of all four amino acids

A

cystine, lysine, arginine, and ornithine

37
Q

inability of the renal
tubules to reabsorb
cystine filtered by the
glomerulus

A

Cystinuria

38
Q

defect in the
lysosomal
membranes

A

Cystinosis

39
Q

Defect in methionine
metabolism

A

Homocystinuria

40
Q

observation of a red or
port wine color to the
urine after exposure to air

A

Porphyrinuria

41
Q

Collective term for
disorders of porphyrin
metabolism

A

Porphyrias

42
Q

3 Primary porphyrins

A

uroporphyrin, coproporphyrin, and protoporphyrin

43
Q

intermediate compounds in the production of heme.

A

Porphyrin

44
Q

can be inherited or acquired from erythrocytic and hepatic malfunctions
or exposure to toxic agents.

A

Porphyrin disorder

45
Q

more acceptable specimen for porphyrin disorder

A

bile

46
Q

screening test for lead poisoning

A

Whole blood

47
Q

lead poisoning, excessive alcohol intake, iron deficiency, chronic liver
disease, and renal disease

A

Acquired porphyrias

48
Q

caused by failure to inherit the gene that produces an enzyme
needed in the metabolic pathway

A

Porphyrin disorder

49
Q

Mucopolysaccharide
Disorders

A

glycosaminoglycans

50
Q

Products most frequently found in the urine are

A

dermatan sulfate, keratan sulfate, and heparan sulfate

51
Q

group of large compounds located primarily in the connective tissue

A

Mucopolysaccharide
Disorders

52
Q

skeletal structure is abnormal and there is
severe mental retardation

A
  • Hurler syndrome
  • Hunter syndrome
53
Q

Purine Disorder also known as

A

Lesch-Nyhan disease

54
Q

General term pertaining to increased urinary sugar

A

Melituria

55
Q

Deficiency can cause cataract development in adulthood

A

oGalactokinase

56
Q

deficiency in any of three enzymes,
galactose-1-phosphate uridyl
transferase (GALT), galactokinase and
UDP-galactose-4-epimerase

A
57
Q

Presence of galactose in urine that is due to inability of the body to metabolize
galactose to glucose

A

galactosuria

58
Q

seen during pregnancy and lactation

A

Lactosuria

59
Q

parenteral feeding
ingestion of large amounts of fruit

A

Fructosuria

60
Q

positive result color for nitroso-naphthol
test

A

Orange-red color

61
Q

Nonspecific, reacts with compounds other
than tyrosine and its metabolites.

A

nitroso-naphthol
test

62
Q

Used to confirm nitro-naphthol test

A

MS/MS

63
Q

positive result for Guthrie’s
microbial
inhibition
assay

A

Bacterial
growth with
around the
paper disks

64
Q

positive result for Phenylpyruvic
acid Urine Test

A

permanent blue-
green color

65
Q

based upon the ferric chloride
reaction performed by tube test

A

Phenylpyruvic
acid Urine Test

66
Q

positive result for Ferric Chloride Tube
Test

A

Gray or black ppt

67
Q

enzyme for phenylketonuria

A

phenylalanine hydroxylase

68
Q

enzyme for alkaptonuria

A

homogentisic acid oxidase

69
Q

positive color for FeCl3 Test

A

transient deep blue color in test tube

70
Q

positive color for Clinitest

A

yellow ppt

71
Q

positive color for Ammoniacal Silver
Nitrate Test

A

black urine

72
Q

for quantitating homogentisic acid.

A

Paper and thin layer chromatography

73
Q

enzyme for maple syrup urine disease

A

decarboxylases and transaminases

74
Q

urine screening test most frequently
performed for keto acids

A

2,4-dinitro-
phenylhydrazine
(DNPH) reaction

75
Q

positive color for 2,4-dinitro-
phenylhydrazine
(DNPH) reaction

A

yellow turbidity

76
Q

produced from tryptophan by the argentaffin cells in the intestine

A

serotonin

77
Q

carcinoid tumors involvingthe argentaffin (enterochromaffin) cells develop, excess amounts of
serotonin are produced, resulting in the elevation of urinary 5-HIAA levels

A

5-Hydroxyindoleacetic Acid

78
Q

food rich in serotonin

A

Bananas
Pineapples
Tomatoes

79
Q

detect coproporphyrin and protoporphyrin

A

fecal analysis

AUB LEC MIDTERM (2 decks)

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