METABOLIC DIS, RENAL DIS, AMNIOTIC FLUID Flashcards
increased amino acid in blood
increases amino acid in urine
seen in pku, msud, cystinosis
overflow type
normal amino acid
increased amino acid in urine
seen in cystinuria, fanconis syndrome
renal type
failure to inherit a gene that codes for a particular enzyme
inborn error of metabolism
negative for gene that codes for phenyalanine hydroxylase
phenylketonuria
a screening test for PKU that involves B. subtilis being cultured with b2-thienylalanine
GUTHRIE BACTERIAL INHIBITION TEST
confirmatory test for PKU
ion exchange HPLC
negative for the gene that codes for homogentisic acid oxidase
alkaptonuria
urine darkens after becoming _______ from standing at room temperature
alkpatonuria
treatment for alkaptonuria
vitamin c
in cases of melanuria, urine darkens upon exposure to ____
air
most common inborn error if metabolism in the philippines
maple syrup urine disease
an inborn error of metabolism with increased ketoacids of LEUCINE, ISOLEUCINE, VALINE
MSUD
tryptophan disorders
indicanuria
argentaffinoma
“blue diaper” disease
hartnup disease
screening test for indicanuria
obermayers test
5-HIAA is a result of metabolism of what hormone
serotonin
when examining urine for argentaffinoma, patient must not eat the following:
banana
pineapple
tomatoes
avocados
chocolates, walnuts, plum, kiwi, and eggplants
urine odor of cystine
sulfur
cystinuria is a defective tubular reabsorption of what amino acids:
cystine
ornithine
lysine
arginine
REAGENT used in Brand’s modification of legal’s nitroprusside
cyanide nitroprusside
porphyria is colorless in___
lead poisoning
cdc recommended test for lead poisoning
free erythrocyte protoporphyrin
compound increased in congenital erythropoietic porphyria
uroporphyrin
hurler syndrome, hunter syndrome, sanfilippo syndrome are what disorder of
mucopolysaccharide