URINE SCREENING Flashcards

1
Q

Diagnostic feature of phenylketonuria

A

Mousy odor urine

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2
Q

most well known of the aminoacidurias

A

PKU

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3
Q

if pku is undetected what is the result

A

severe mental retardation

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4
Q

what is the enzyme deficient of PKU

A

Phenylalanine hydroxylase

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5
Q

tests for phenylketonuria

A

phenylalanine blood level
phenylpyruvic acid urine test
guthrie’s microbial inhibition assay

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6
Q

test that detects as early as 4 hours

A

phenylalanine blood level

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7
Q

test that gives a permanent blue green color

A

phenylpyruvic acid urine test

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8
Q

blue color

A

indicanuria

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9
Q

sulfur odor

A

cystinuria

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10
Q

black color

A

alkaptonuria

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11
Q

orange diaper

A

lesch nyhan

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12
Q

sweaty feet

A

isovaleric acidemia

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13
Q

test where blood from a heel stick is absorbed into filter paper circles

A

guthrie’s microbial inhibition assat

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14
Q

if increased phenylalanine levels are present in blood where would it counteracts

A

beta-2-thienylalanine

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15
Q

beta-2-thienylalanine is an inhibitor of what bacteria

A

b. subtilis

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16
Q

Accumulation of excess tyrosine in the plasma producing urinary overflow

A

Tyrosyluria or tyrosinemia

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17
Q

what are the urine metabolites of tyrosinemia

A

p-hydroxyphenylpyruvic acid
p-hydroxyphenyllactic acid

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18
Q

tyrosinemia commonly seen in premature infants

A

transitory tyrosinemia

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19
Q

underdevelopment of liver function to produce enzyme for tyrosine metabolism

A

transitory tyrosinemia

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20
Q

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

A

type 1 fumarylacetoacetate hydrolase

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21
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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22
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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23
Q

tests for tyrosinemia

A

nitrosonapthol test
MS/MS

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24
Q

test for tyrosinemia that gives a orange red color

A

nitrosonapthol test

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25
Q

used to confirm nitronapthol test

A

MS/MS

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26
Q

indicates the overproliferation of the normal melanin producing cells (melanocytes)
producing a malignant melanoma

A

melanuria

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27
Q

urinary melanin produces____ that will oxidize melanogen to melanin

A

5,6,-hydorxyindole

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28
Q

tests for melanuria

A

ferric chloride tube test
sodium nitroprusside test

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29
Q

oxidation of chromogen

A

ferric chloride tube test

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30
Q

screening test for melanuria

A

sodium nitroprusside test

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31
Q

what are the interferences for sodium nitroprusside

A

acetone
creatinine

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32
Q

interference of sodium nitroprusside what will you add

A

glacial hac

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33
Q

what does glacial hac do

A

reverts color greenish to black

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34
Q

what color does acetone produce

A

purple

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35
Q

what color does creatinine produce

A

amber

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36
Q

also known as alkali lover

A

alkaptonuria

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37
Q

one of the sic original inborn errors of metabolism

A

alkaptonuria

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38
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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39
Q

what enzyme does alkaptonuria lack?

A

homogentisic acid oxidase

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40
Q

tests for alkaptonuria

A

fecl3 test
clinitest
urinary homogenistic acid test
ammoniacal silver nitrate test
paper and thin layer chomatograph

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41
Q

what color does fecl3 produce

A

transient deep blue color

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42
Q

what color does clinitest produce

A

yellow ppt

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43
Q

what is the interference of urinary homegenistic acid test

A

ascorbic acid

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44
Q

for quantitating homogenistic acid

A

paper and thin layer chromatography

45
Q

black urine

A

ammoniacal silver nitrate test

46
Q

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

A

branched chain amino acid disorder

47
Q

2 major groups of disorders

A

MSUD
organic acidemia

48
Q

amino acids involved in MSUD

A

leucine
isoleucine
valine

49
Q

three amino acids in the liver to the keto acids

A

a-ketoisovaleric
a-ketoisocaproic
a-keto-b-methylvaleric

50
Q

maple syrup odor

A

MSUD

51
Q

test for MSUD

A

2,4-dinitrophenylhyrazine reaction

52
Q

result of DNPH

A

yellow turbidity or ppt

53
Q

interferences of DNPH

A

large doses of ampicillin
positive rgt strip result for ketones

54
Q

special characteristic of isovaleric acidemia

A

accumulation of isovalerylglycine

55
Q

what enzyme does isovaleric acidemia lack?

A

isovaleryl coenzyme

56
Q

which pathway is isovaleryl coenzyme is deficient

A

leucine pathway

57
Q

special charcteristic of propionic acidemia

A

immediate precursor to methylmalonic acid

58
Q

errors in the metabolic pathway converting isoleucine, threonin, methionine,valine to succinyl coa

A

propionic acidemia

59
Q

this produces a emerald green color in MS/MS

A

p-nitroaniline urine test

60
Q

special screening tests for organic acidemia

A

2,4 DNPH - yellow
acetest - purple

methylmalonic acidemia
p-nitroaniline test - emerald green

61
Q

increased amounts of tryptophan are converted to indole

A

hartnup disease

62
Q

blue diaper syndrome

A

indicanuria

63
Q

fecl3 test produces

A

deep blue/ violet color

64
Q

stimulation of smooth muscle

A

serotonin

65
Q

degredation product

A

5-HIAA

66
Q

tests for 5-hydroxyindoleacetic acid

A

nitrosonapthol test

67
Q

reagent of nitrosonapthol test

A

nitrous acid 1-nitroso-2-napthol

68
Q

color of production of nitrosonapthol test

A

purple to black color

69
Q

normal daily excretion of 5-hydroxyindoleacetic acid

A

2-8 mg

70
Q

requirement sample of nitrosonapthol test

A

24 hour sample

71
Q

preservatives of nitrosonapthol test

A

hcl
boric acid

72
Q

other requirements for nitrosonapthol test

A

strict diet
hold medication for 72 hrs

73
Q

what are the medications to hold prior to nitrosonapthtol test

A

phenotiazines
acetanilids

74
Q

Characterized by marked by elevated amounts of the amino acid cystine in
the urine.

A

Cystinuria

75
Q

can cause renal calculi in early life

A

cystinuria

76
Q

2 modes of inheritance of cystinuria

A

reabsorption of all four amino acids—cystine, lysine, arginine, and ornithine—is affected
cystine and lysine are not reabsorbed

77
Q

elevated a.a. cystine in
urine
(+) cystine crystals in
urine

A

cystinuria

78
Q

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

A

cytinuria

79
Q

Cyanide-nitroprusside
Test (red-purple color)

A

cystinuria

80
Q

crystalline
deposits of
cystine in many
areas of the body

A

cystinosis

81
Q

defect in the
lysosomal
membranes

A

cystinosis

82
Q

Positive test
results for
reducing
substances

A

cystinosis

83
Q

increase in
homocystine
throughout the body.

A

homocystinuria

84
Q

Defect in methionine
metabolism

A

homocystinuria

85
Q

(+) cyanidenitroprusside test plus
(+) silver-nitroprusside
test

A

homocystinuria

86
Q

Collective term for
disorders of porphyrin
metabolism

A

porphyrias

87
Q

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

A

porphyrinuria

88
Q

test for porphyrinuria

A

Ehrlich reaction
(Watson-Schwartz)
and fluorescence Test

89
Q

intermediate compounds in the production of heme

A

porphyrin

90
Q

3 Primary porphyrins

A

uroporphyrin, coproporphyrin, and protoporphyrin

91
Q

Porphyrin precursors

A

α -aminolevulinic acid [ALA] and porphobilinogen

92
Q

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

A

porphyrin

93
Q

detection of porphyrin

A

Urine - ALA, porphobilinogen, and uroporphyrin
Fecal analysis - detect coproporphyrin and protoporphyrin.
Bile is a more acceptable specimen (false-positive interference)
Whole blood - (FEP) as a screening test for lead poisoning (CDC)

94
Q

acquired porphyrias

A

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

95
Q

also known as glycosaminoglycans
group of large compounds located primarily in the connective tissue.

A

Mucopolysaccharide

96
Q

skeletal structure is abnormal and there is
severe mental retardation

A

hurler syndrome
hunter syndrome

97
Q

mucopolysaccharides
accumulate in the cornea of
the eye

A

hurler syndrome

98
Q

rarely seen in females

A

hunter syndrome

99
Q

treatment for hurler, hunter and sanfilippo

A

BM transplant
gene replacement theraphy

100
Q

Failure to inherit the gene
to produce the enzyme
hypoxanthine guanine
phosphoribosyltransferase

A

lesch-nyhan disease

101
Q

severe motor defects
mental retardation
tendency toward selfdestruction
Gout
renal calculi
Presence of uric acid crystals
resembling orange sand in
diapers

A

lesch nyhan disease

102
Q

General term pertaining to increased urinary sugar

A

Melituria

103
Q

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

A

galactosuria

104
Q

one of Garrod’s original six IEMs

A

pentosuria

105
Q

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

A

galactosuria

106
Q

seen during pregnancy and lactation

A

lactosuria

107
Q

parenteral feeding
ingestion of large amounts of fruit

A

fructosuria

108
Q

tests for carbohydrate disorder

A

clinitest