URINE SCREENING Flashcards
Diagnostic feature of phenylketonuria
Mousy odor urine
most well known of the aminoacidurias
PKU
if pku is undetected what is the result
severe mental retardation
what is the enzyme deficient of PKU
Phenylalanine hydroxylase
tests for phenylketonuria
phenylalanine blood level
phenylpyruvic acid urine test
guthrie’s microbial inhibition assay
test that detects as early as 4 hours
phenylalanine blood level
test that gives a permanent blue green color
phenylpyruvic acid urine test
blue color
indicanuria
sulfur odor
cystinuria
black color
alkaptonuria
orange diaper
lesch nyhan
sweaty feet
isovaleric acidemia
test where blood from a heel stick is absorbed into filter paper circles
guthrie’s microbial inhibition assat
if increased phenylalanine levels are present in blood where would it counteracts
beta-2-thienylalanine
beta-2-thienylalanine is an inhibitor of what bacteria
b. subtilis
Accumulation of excess tyrosine in the plasma producing urinary overflow
Tyrosyluria or tyrosinemia
what are the urine metabolites of tyrosinemia
p-hydroxyphenylpyruvic acid
p-hydroxyphenyllactic acid
tyrosinemia commonly seen in premature infants
transitory tyrosinemia
underdevelopment of liver function to produce enzyme for tyrosine metabolism
transitory tyrosinemia
Produces a generalized renal tubular disorder and
progressive liver failure in infants soon after birth
type 1 fumarylacetoacetate hydrolase
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
type 2 tyrosine aminotransferase
result in mental retardation if dietary restrictions of
phenylalanine and tyrosine are not implemented
type 3 p-hydroxyphenylpyruvic acid
dioxygenase
tests for tyrosinemia
nitrosonapthol test
MS/MS
test for tyrosinemia that gives a orange red color
nitrosonapthol test
used to confirm nitronapthol test
MS/MS
indicates the overproliferation of the normal melanin producing cells (melanocytes)
producing a malignant melanoma
melanuria
urinary melanin produces____ that will oxidize melanogen to melanin
5,6,-hydorxyindole
tests for melanuria
ferric chloride tube test
sodium nitroprusside test
oxidation of chromogen
ferric chloride tube test
screening test for melanuria
sodium nitroprusside test
what are the interferences for sodium nitroprusside
acetone
creatinine
interference of sodium nitroprusside what will you add
glacial hac
what does glacial hac do
reverts color greenish to black
what color does acetone produce
purple
what color does creatinine produce
amber
also known as alkali lover
alkaptonuria
one of the sic original inborn errors of metabolism
alkaptonuria
third major defect in the
phenylalanine-tyrosine pathway and
occurs from failure to inherit the
gene to produce the enzyme
homogentisic acid oxidase
alkaptonuria
what enzyme does alkaptonuria lack?
homogentisic acid oxidase
tests for alkaptonuria
fecl3 test
clinitest
urinary homogenistic acid test
ammoniacal silver nitrate test
paper and thin layer chomatograph
what color does fecl3 produce
transient deep blue color
what color does clinitest produce
yellow ppt
what is the interference of urinary homegenistic acid test
ascorbic acid
for quantitating homogenistic acid
paper and thin layer chromatography
black urine
ammoniacal silver nitrate test
Differ from other amino acidsby having a
methyl group that branches from the main
aliphatic carbon chain
branched chain amino acid disorder
2 major groups of disorders
MSUD
organic acidemia
amino acids involved in MSUD
leucine
isoleucine
valine
three amino acids in the liver to the keto acids
a-ketoisovaleric
a-ketoisocaproic
a-keto-b-methylvaleric
maple syrup odor
MSUD
test for MSUD
2,4-dinitrophenylhyrazine reaction
result of DNPH
yellow turbidity or ppt
interferences of DNPH
large doses of ampicillin
positive rgt strip result for ketones
special characteristic of isovaleric acidemia
accumulation of isovalerylglycine
what enzyme does isovaleric acidemia lack?
isovaleryl coenzyme
which pathway is isovaleryl coenzyme is deficient
leucine pathway
special charcteristic of propionic acidemia
immediate precursor to methylmalonic acid
errors in the metabolic pathway converting isoleucine, threonin, methionine,valine to succinyl coa
propionic acidemia
this produces a emerald green color in MS/MS
p-nitroaniline urine test
special screening tests for organic acidemia
2,4 DNPH - yellow
acetest - purple
methylmalonic acidemia
p-nitroaniline test - emerald green
increased amounts of tryptophan are converted to indole
hartnup disease
blue diaper syndrome
indicanuria
fecl3 test produces
deep blue/ violet color
stimulation of smooth muscle
serotonin
degredation product
5-HIAA
tests for 5-hydroxyindoleacetic acid
nitrosonapthol test
reagent of nitrosonapthol test
nitrous acid 1-nitroso-2-napthol
color of production of nitrosonapthol test
purple to black color
normal daily excretion of 5-hydroxyindoleacetic acid
2-8 mg
requirement sample of nitrosonapthol test
24 hour sample
preservatives of nitrosonapthol test
hcl
boric acid
other requirements for nitrosonapthol test
strict diet
hold medication for 72 hrs
what are the medications to hold prior to nitrosonapthtol test
phenotiazines
acetanilids
Characterized by marked by elevated amounts of the amino acid cystine in
the urine.
Cystinuria
can cause renal calculi in early life
cystinuria
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
elevated a.a. cystine in
urine
(+) cystine crystals in
urine
cystinuria
inability of the renal
tubules to reabsorb
cystine filtered by the
glomerulus
cytinuria
Cyanide-nitroprusside
Test (red-purple color)
cystinuria
crystalline
deposits of
cystine in many
areas of the body
cystinosis
defect in the
lysosomal
membranes
cystinosis
Positive test
results for
reducing
substances
cystinosis
increase in
homocystine
throughout the body.
homocystinuria
Defect in methionine
metabolism
homocystinuria
(+) cyanidenitroprusside test plus
(+) silver-nitroprusside
test
homocystinuria
Collective term for
disorders of porphyrin
metabolism
porphyrias
observation of a red or
port wine color to the
urine after exposure to air
porphyrinuria
test for porphyrinuria
Ehrlich reaction
(Watson-Schwartz)
and fluorescence Test
intermediate compounds in the production of heme
porphyrin
3 Primary porphyrins
uroporphyrin, coproporphyrin, and protoporphyrin
Porphyrin precursors
α -aminolevulinic acid [ALA] and porphobilinogen
can be inherited or acquired from erythrocytic and hepatic malfunctions
or exposure to toxic agents
porphyrin
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)
acquired porphyrias
lead poisoning, excessive alcohol intake, iron deficiency, chronic liver
disease, and renal disease.
also known as glycosaminoglycans
group of large compounds located primarily in the connective tissue.
Mucopolysaccharide
skeletal structure is abnormal and there is
severe mental retardation
hurler syndrome
hunter syndrome
mucopolysaccharides
accumulate in the cornea of
the eye
hurler syndrome
rarely seen in females
hunter syndrome
treatment for hurler, hunter and sanfilippo
BM transplant
gene replacement theraphy
Failure to inherit the gene
to produce the enzyme
hypoxanthine guanine
phosphoribosyltransferase
lesch-nyhan disease
severe motor defects
mental retardation
tendency toward selfdestruction
Gout
renal calculi
Presence of uric acid crystals
resembling orange sand in
diapers
lesch nyhan disease
General term pertaining to increased urinary sugar
Melituria
Presence of galactose in urine that is due to inability of the body to metabolize
galactose to glucose.
galactosuria
one of Garrod’s original six IEMs
pentosuria
deficiency in any of three enzymes,
galactose-1-phosphate uridyl
transferase (GALT), galactokinase and
UDP-galactose-4-epimerase
galactosuria
seen during pregnancy and lactation
lactosuria
parenteral feeding
ingestion of large amounts of fruit
fructosuria
tests for carbohydrate disorder
clinitest
