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