urine screening for metabolic disorder Flashcards
enzyme deficient in phenylketonuria
a. tyrosinemia
b. fumarylacetoacetate
c. phenylalanine hydroxylase
phenylketonuria
enzyme deficient - phenylalanine hydroxylase
what disorder has a rancid butter disorder
a. phenylketonuria
b. tyrosinemia
c, alkaptonuria
tyrosinemia
in what disorder does FeCl3 tube test has a blue green positive result
a. phenylketonuria
b. tyrosinemia
c. alkaptinuria
d. melanuria
phenylketonuria
what disorder is associated with mental retardation
a. phenylketonuria
b. alkaptinuria
c. tyrosinemia
phenyketonuria
what type of tyrosinemia has an enzyme deficient TYROSINE AMINOTRANSFERASE
a. type 1
b. type 2
c. type 3
type 1 - fumarylaceto acetae hydrolase
type 2 - tyrosine aminotransferase
type 3 - p-hydroxyphenylpyruvic acid dioxygenase
what is the enzyme deficient in alkaptonuria
a. homogentisic acid oxidase
b. melanuria
c. tyrosine
homogentisic acid oxidase
melanin is produced form?
a. homegentisic
b. tyrosine
c. phenylalanine
d. fumaryacetoacetic acid
tyrosine
deficient in production of melanin
a. albinism
b. mental retardation
c. msud
albinism
an observation of brown stained or black stained cloth diapers and reddish stained disposable diapers indicates ______
a. phenylketonuria
b. alkaptonuria
c. melanuria
alkaptonuria
a colorless precursor of melanin, which can be oxidized to melanogen and then melanin producing the characteristic of dark urine
a. 5-6 dihydroxyindole
b. fumarylacetoacetic acid
c. phenylalanine
d. homogentisic acid
5-6 dihydroxyindole
how many drops of 10 % ferric chloride to be used in ferric chloride test
a. 5 drops
b. 10 drops
c. 2 drops
slowly add 5 drops of 10% FeCl
caramelized sugar / burnt sugar/ curry odor what amino acid disorder it is
a. msud
b. isovaleric acidemias
c. melanuria
msud
what are the amino acid that increases in msud
a. leucine
b. valine
c. isoleucine
d. epinephrine
- a and b
- a.and c
- a, b, d
- a, b and c
disorder : Maple Syrup urine disorder
information : amino acid that increases in blood and urine –> isoleucine, leucine and valine
test : 2, 4 - dinitrophenylhydrazine (DNPH)
(+) yellow precipitate
what amino acid disorder ha s a sweaty feet disoders
a. tyrosinemia
b. acidemias
c. msud
acidemias
- isovaleric acidemias
- propionic acidemias
- methylmalnic acidemia
which of the following is associated with melanuria
a. phenylalanine
b. homogentisic acid
c. serotonin
d. tyrosine
tyrosine
blue diaper syndrome
a. hartnup’s disease
b. intestinal disorder
c. carcinoid tumor
hartnup’s disease
indigo blue color urine
a. indicanuria
b. acidemia’s
c. argentaffinoma
indicaduria
what disorder is excess production of serotonin
a. indicaduria
b. argentaffinoma
c. acidemia’s
argentaffinoma
which of the following is tryptophan disorder
a. indicaduria
b. melanuria
c. cystinuria
indicaduria
defects in the metabolism of methionine that leads to increase homocysteine
a. cystinosis
b. cystinuria
b. homocystinuria
homocystinuria
– no cystine , but meron methionine
what urine sample to be used in silver nitroprusside test
a. first morning
b. random urine
c. fresh urine
fresh urine
what disorder to be use is sodium nitroprusside test
a. cystinosis
b. cystinuria
c. homocystinuria
homocystinuria
mucopolysaccharides accumulate in the cornea of the eye
a. hunter syndrome
b. hartnup’s disease
c. hurler syndrome
d. sanfilippo syndrome
hurler syndrome
sex linked recessive, rarely seen in females
a. hunter syndrome
b. hartnup’s disease
c. hurler syndrome
d. sanfilippo syndrome
hunter syndrome
what mucopolysaccharide disorder has a mental retardation
a. hunter syndrome
b. hartnup’s disease
c. hurler syndrome
d. sanfilippo syndrome
sanfilippo syndrome
which of the following disorder is mucopolysaccharide
a. hartnup’s disease
b. hurler syndrome
c. cystinuria
hurler syndrome
where does serotonin produced from
a. tyrosine
b. tyrptophan
c. phenylalanine
tryptophan
serotonin is produced form tryptophan by the argentaffin cells
false positive in cyanide nitroprusside test is associated with presence of
a. blood
b. nitrite
c. ketones
false POSITIVE result in cyanide nitroprusside test is associated with the presence of ketones and homocysteine
if 24 hr urine sample is used in 5hiaa measurement, the sample must be
a. preserved in boric acid
b. preserved in formalin
c. refrigerated
if 24 hour urine sample is used in 5- HIAA measurement the sample must be preserved in boric acid or hydrochloric
what disorder is lack of enzyme HYPOXANTINE GUANINE PHOSPHORIBOSYL TRANSFERASE
a. alkaptonuria
b. lesch- nylan syndrome
b. hartnup’s disease
lesch nylan syndrome
orange sand diapers
a. hartnup’s disease
b. lesch nylan disease
c. hurler syndrome
hartnup’s disease
- BLUE DIAPER SYNDROME
LESCH NYLAN DISEASE
- ORANGE SAN DIAPER
hurler syndrome
- cornea of the eye
first sign to be seen in lesch nylan disease
a. hematuria
b, uric acid crystals
c. calcium oxalate
d. cysteine
uric acid crystals resembling orange sand diapers
burgundy urine/ purple urine
a. porphyrin disorder
b. mucopolysaccharide disorders
c. sanfilippo syndrome
porphyrin disorder
urine color - red / puple / burgundy red / port wine / purplish red
colorless in lead poisoning
a. porphyrin disorder
b. mucopolysaccharide disorders
c. sanfilippo syndrome
porphyrin disorder
which of the following disease is carbohydrate disorder
a. galactosuria
b. lead poisoning
c. hurler syndrome
d. lesch nylan disease
carbohydrate disorder
melituria - presence of urinary sugar
galactosuria - inability to metabolize galactose to glucose
which of the vampire’s disease is elevated only in uroporphyrin
a. acute intermittent porphyria
b. porphyria cutanea tarda
c. congenital erthyropoietic porphyria
d. lead poisoning
porphyria cutanea tarda - elevated in uroporphyrin
