Urine screening Flashcards

(79 cards)

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
third major defect in the phenylalanine-tyrosine pathway and occurs from failure to inherit the gene to produce the enzyme homogentisic acid oxidase
Alkaptonuria
26
Who described alkaptonuria?
Garrod
27
Test for Alkaptonuria
- FeCl3 Test - clinitest - Urinary Homogentisic Acid Test - Ammoniacal Silver Nitrate Test
28
Differ from other amino acidsby having a methyl group that branches from the main aliphatic carbon chain
BRANCHED- CHAIN AMINO ACID DISORDER
29
2 MAJOR GROUPS OF DISORDERS OF BRANCHED- CHAIN AMINO ACID DISORDER
Maple Syrup Urine Disease (MSUD) Organic Acidemia
30
The amino acids involved are leucine,isoleucine, and valine
Maple Syrup Urine Disease
31
Who discovered maple syrup urine disease
Menke
32
odor of Organic Acidemias
Sweaty feet odor of urine
33
Blue diaper syndrome
TRYPTOPHAN DISORDERS Indicanuria
34
increased amounts of tryptophan are converted to indole
Hartnup disease
35
Can cause renal calculi formations in early lif
Cystinuria
36
reabsorption of all four amino acids
cystine, lysine, arginine, and ornithine
37
inability of the renal tubules to reabsorb cystine filtered by the glomerulus
Cystinuria
38
defect in the lysosomal membranes
Cystinosis
39
Defect in methionine metabolism
Homocystinuria
40
observation of a red or port wine color to the urine after exposure to air
Porphyrinuria
41
Collective term for disorders of porphyrin metabolism
Porphyrias
42
3 Primary porphyrins
uroporphyrin, coproporphyrin, and protoporphyrin
43
intermediate compounds in the production of heme.
Porphyrin
44
can be inherited or acquired from erythrocytic and hepatic malfunctions or exposure to toxic agents.
Porphyrin disorder
45
more acceptable specimen for porphyrin disorder
bile
46
screening test for lead poisoning
Whole blood
47
lead poisoning, excessive alcohol intake, iron deficiency, chronic liver disease, and renal disease
Acquired porphyrias
48
caused by failure to inherit the gene that produces an enzyme needed in the metabolic pathway
Porphyrin disorder
49
Mucopolysaccharide Disorders
glycosaminoglycans
50
Products most frequently found in the urine are
dermatan sulfate, keratan sulfate, and heparan sulfate
51
group of large compounds located primarily in the connective tissue
Mucopolysaccharide Disorders
52
skeletal structure is abnormal and there is severe mental retardation
- Hurler syndrome - Hunter syndrome
53
Purine Disorder also known as
Lesch-Nyhan disease
54
General term pertaining to increased urinary sugar
Melituria
55
Deficiency can cause cataract development in adulthood
oGalactokinase
56
deficiency in any of three enzymes, galactose-1-phosphate uridyl transferase (GALT), galactokinase and UDP-galactose-4-epimerase
57
Presence of galactose in urine that is due to inability of the body to metabolize galactose to glucose
galactosuria
58
seen during pregnancy and lactation
Lactosuria
59
parenteral feeding ingestion of large amounts of fruit
Fructosuria
60
positive result color for nitroso-naphthol test for tyrosiluria
Orange-red color
61
Nonspecific, reacts with compounds other than tyrosine and its metabolites.
nitroso-naphthol test
62
Used to confirm nitro-naphthol test
MS/MS
63
positive result for Guthrie’s microbial inhibition assay
Bacterial growth with around the paper disks
64
positive result for Phenylpyruvic acid Urine Test
permanent blue- green color
65
based upon the ferric chloride reaction performed by tube test
Phenylpyruvic acid Urine Test
66
positive result for Ferric Chloride Tube Test
Gray or black ppt
67
enzyme for phenylketonuria
phenylalanine hydroxylase
68
enzyme for alkaptonuria
homogentisic acid oxidase
69
positive color for FeCl3 Test for Alkaptonuria
transient deep blue color in test tube
70
positive color for Clinitest
yellow ppt
71
positive color for Ammoniacal Silver Nitrate Test
black urine
72
for quantitating homogentisic acid.
Paper and thin layer chromatography
73
enzyme for maple syrup urine disease
decarboxylases and transaminases
74
urine screening test most frequently performed for keto acids
2,4-dinitro- phenylhydrazine (DNPH) reaction
75
positive color for 2,4-dinitro- phenylhydrazine (DNPH) reaction
yellow turbidity
76
produced from tryptophan by the argentaffin cells in the intestine
serotonin
77
carcinoid tumors involvingthe argentaffin (enterochromaffin) cells develop, excess amounts of serotonin are produced, resulting in the elevation of urinary 5-HIAA levels
5-Hydroxyindoleacetic Acid
78
food rich in serotonin
Bananas Pineapples Tomatoes
79
detect coproporphyrin and protoporphyrin
fecal analysis