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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
used to confirm nitronapthol test
MS/MS
26
indicates the overproliferation of the normal melanin producing cells (melanocytes) producing a malignant melanoma
melanuria
27
urinary melanin produces____ that will oxidize melanogen to melanin
5,6,-hydorxyindole
28
tests for melanuria
ferric chloride tube test sodium nitroprusside test
29
oxidation of chromogen
ferric chloride tube test
30
screening test for melanuria
sodium nitroprusside test
31
what are the interferences for sodium nitroprusside
acetone creatinine
32
interference of sodium nitroprusside what will you add
glacial hac
33
what does glacial hac do
reverts color greenish to black
34
what color does acetone produce
purple
35
what color does creatinine produce
amber
36
also known as alkali lover
alkaptonuria
37
one of the sic original inborn errors of metabolism
alkaptonuria
38
third major defect in the phenylalanine-tyrosine pathway and occurs from failure to inherit the gene to produce the enzyme homogentisic acid oxidase
alkaptonuria
39
what enzyme does alkaptonuria lack?
homogentisic acid oxidase
40
tests for alkaptonuria
fecl3 test clinitest urinary homogenistic acid test ammoniacal silver nitrate test paper and thin layer chomatograph
41
what color does fecl3 produce
transient deep blue color
42
what color does clinitest produce
yellow ppt
43
what is the interference of urinary homegenistic acid test
ascorbic acid
44
for quantitating homogenistic acid
paper and thin layer chromatography
45
black urine
ammoniacal silver nitrate test
46
Differ from other amino acidsby having a methyl group that branches from the main aliphatic carbon chain
branched chain amino acid disorder
47
2 major groups of disorders
MSUD organic acidemia
48
amino acids involved in MSUD
leucine isoleucine valine
49
three amino acids in the liver to the keto acids
a-ketoisovaleric a-ketoisocaproic a-keto-b-methylvaleric
50
maple syrup odor
MSUD
51
test for MSUD
2,4-dinitrophenylhyrazine reaction
52
result of DNPH
yellow turbidity or ppt
53
interferences of DNPH
large doses of ampicillin positive rgt strip result for ketones
54
special characteristic of isovaleric acidemia
accumulation of isovalerylglycine
55
what enzyme does isovaleric acidemia lack?
isovaleryl coenzyme
56
which pathway is isovaleryl coenzyme is deficient
leucine pathway
57
special charcteristic of propionic acidemia
immediate precursor to methylmalonic acid
58
errors in the metabolic pathway converting isoleucine, threonin, methionine,valine to succinyl coa
propionic acidemia
59
this produces a emerald green color in MS/MS
p-nitroaniline urine test
60
special screening tests for organic acidemia
2,4 DNPH - yellow acetest - purple methylmalonic acidemia p-nitroaniline test - emerald green
61
increased amounts of tryptophan are converted to indole
hartnup disease
62
blue diaper syndrome
indicanuria
63
fecl3 test produces
deep blue/ violet color
64
stimulation of smooth muscle
serotonin
65
degredation product
5-HIAA
66
tests for 5-hydroxyindoleacetic acid
nitrosonapthol test
67
reagent of nitrosonapthol test
nitrous acid 1-nitroso-2-napthol
68
color of production of nitrosonapthol test
purple to black color
69
normal daily excretion of 5-hydroxyindoleacetic acid
2-8 mg
70
requirement sample of nitrosonapthol test
24 hour sample
71
preservatives of nitrosonapthol test
hcl boric acid
72
other requirements for nitrosonapthol test
strict diet hold medication for 72 hrs
73
what are the medications to hold prior to nitrosonapthtol test
phenotiazines acetanilids
74
Characterized by marked by elevated amounts of the amino acid cystine in the urine.
Cystinuria
75
can cause renal calculi in early life
cystinuria
76
2 modes of inheritance of cystinuria
reabsorption of all four amino acids—cystine, lysine, arginine, and ornithine—is affected cystine and lysine are not reabsorbed
77
elevated a.a. cystine in urine (+) cystine crystals in urine
cystinuria
78
inability of the renal tubules to reabsorb cystine filtered by the glomerulus
cytinuria
79
Cyanide-nitroprusside Test (red-purple color)
cystinuria
80
crystalline deposits of cystine in many areas of the body
cystinosis
81
defect in the lysosomal membranes
cystinosis
82
Positive test results for reducing substances
cystinosis
83
increase in homocystine throughout the body.
homocystinuria
84
Defect in methionine metabolism
homocystinuria
85
(+) cyanidenitroprusside test plus (+) silver-nitroprusside test
homocystinuria
86
Collective term for disorders of porphyrin metabolism
porphyrias
87
observation of a red or port wine color to the urine after exposure to air
porphyrinuria
88
test for porphyrinuria
Ehrlich reaction (Watson-Schwartz) and fluorescence Test
89
intermediate compounds in the production of heme
porphyrin
90
3 Primary porphyrins
uroporphyrin, coproporphyrin, and protoporphyrin
91
Porphyrin precursors
α -aminolevulinic acid [ALA] and porphobilinogen
92
can be inherited or acquired from erythrocytic and hepatic malfunctions or exposure to toxic agents
porphyrin
93
detection of porphyrin
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
acquired porphyrias
lead poisoning, excessive alcohol intake, iron deficiency, chronic liver disease, and renal disease.
95
also known as glycosaminoglycans group of large compounds located primarily in the connective tissue.
Mucopolysaccharide
96
skeletal structure is abnormal and there is severe mental retardation
hurler syndrome hunter syndrome
97
mucopolysaccharides accumulate in the cornea of the eye
hurler syndrome
98
rarely seen in females
hunter syndrome
99
treatment for hurler, hunter and sanfilippo
BM transplant gene replacement theraphy
100
Failure to inherit the gene to produce the enzyme hypoxanthine guanine phosphoribosyltransferase
lesch-nyhan disease
101
severe motor defects mental retardation tendency toward selfdestruction Gout renal calculi Presence of uric acid crystals resembling orange sand in diapers
lesch nyhan disease
102
General term pertaining to increased urinary sugar
Melituria
103
Presence of galactose in urine that is due to inability of the body to metabolize galactose to glucose.
galactosuria
104
one of Garrod’s original six IEMs
pentosuria
105
deficiency in any of three enzymes, galactose-1-phosphate uridyl transferase (GALT), galactokinase and UDP-galactose-4-epimerase
galactosuria
106
seen during pregnancy and lactation
lactosuria
107
parenteral feeding ingestion of large amounts of fruit
fructosuria
108
tests for carbohydrate disorder
clinitest

AUBF (6 decks)

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