urine screening for metabolic disorder

Question 1

enzyme deficient in phenylketonuria

a. tyrosinemia
b. fumarylacetoacetate
c. phenylalanine hydroxylase

Answer 1

phenylketonuria

enzyme deficient - phenylalanine hydroxylase

Question 2

what disorder has a rancid butter disorder

a. phenylketonuria
b. tyrosinemia
c, alkaptonuria

Answer 2

tyrosinemia

Question 3

in what disorder does FeCl3 tube test has a blue green positive result

a. phenylketonuria
b. tyrosinemia
c. alkaptinuria
d. melanuria

Answer 3

phenylketonuria

Question 4

what disorder is associated with mental retardation

a. phenylketonuria
b. alkaptinuria
c. tyrosinemia

Answer 4

phenyketonuria

Question 5

what type of tyrosinemia has an enzyme deficient TYROSINE AMINOTRANSFERASE

a. type 1
b. type 2
c. type 3

Answer 5

type 1 - fumarylaceto acetae hydrolase

type 2 - tyrosine aminotransferase

type 3 - p-hydroxyphenylpyruvic acid dioxygenase

Question 6

what is the enzyme deficient in alkaptonuria

a. homogentisic acid oxidase
b. melanuria
c. tyrosine

Answer 6

homogentisic acid oxidase

Question 7

melanin is produced form?

a. homegentisic
b. tyrosine
c. phenylalanine
d. fumaryacetoacetic acid

Answer 7

tyrosine

Question 8

deficient in production of melanin

a. albinism
b. mental retardation
c. msud

Answer 8

albinism

Question 9

an observation of brown stained or black stained cloth diapers and reddish stained disposable diapers indicates ______

a. phenylketonuria
b. alkaptonuria
c. melanuria

Answer 9

alkaptonuria

Question 10

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

Answer 10

5-6 dihydroxyindole

Question 11

how many drops of 10 % ferric chloride to be used in ferric chloride test

a. 5 drops
b. 10 drops
c. 2 drops

Answer 11

slowly add 5 drops of 10% FeCl

Question 12

caramelized sugar / burnt sugar/ curry odor what amino acid disorder it is

a. msud
b. isovaleric acidemias
c. melanuria

Answer 12

msud

Question 13

what are the amino acid that increases in msud

a. leucine
b. valine
c. isoleucine
d. epinephrine

1. a and b
2. a.and c
3. a, b, d
4. a, b and c

Answer 13

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

Question 14

what amino acid disorder ha s a sweaty feet disoders

a. tyrosinemia
b. acidemias
c. msud

Answer 14

acidemias

1. isovaleric acidemias
2. propionic acidemias
3. methylmalnic acidemia

Question 15

which of the following is associated with melanuria

a. phenylalanine
b. homogentisic acid
c. serotonin
d. tyrosine

Answer 15

tyrosine

Question 16

blue diaper syndrome

a. hartnup’s disease
b. intestinal disorder
c. carcinoid tumor

Answer 16

hartnup’s disease

Question 17

indigo blue color urine

a. indicanuria
b. acidemia’s
c. argentaffinoma

Answer 17

indicaduria

Question 18

what disorder is excess production of serotonin

a. indicaduria
b. argentaffinoma
c. acidemia’s

Answer 18

argentaffinoma

Question 19

which of the following is tryptophan disorder

a. indicaduria
b. melanuria
c. cystinuria

Answer 19

indicaduria

Question 20

defects in the metabolism of methionine that leads to increase homocysteine

a. cystinosis
b. cystinuria
b. homocystinuria

Answer 20

homocystinuria

– no cystine , but meron methionine

Question 21

what urine sample to be used in silver nitroprusside test

a. first morning
b. random urine
c. fresh urine

Answer 21

fresh urine

Question 22

what disorder to be use is sodium nitroprusside test

a. cystinosis
b. cystinuria
c. homocystinuria

Answer 22

homocystinuria

Question 23

mucopolysaccharides accumulate in the cornea of the eye

a. hunter syndrome
b. hartnup’s disease
c. hurler syndrome
d. sanfilippo syndrome

Answer 23

hurler syndrome

Question 24

sex linked recessive, rarely seen in females

a. hunter syndrome
b. hartnup’s disease
c. hurler syndrome
d. sanfilippo syndrome

Answer 24

hunter syndrome

Question 25

what mucopolysaccharide disorder has a mental retardation

a. hunter syndrome
b. hartnup’s disease
c. hurler syndrome
d. sanfilippo syndrome

Answer 25

sanfilippo syndrome

Question 26

which of the following disorder is mucopolysaccharide

a. hartnup’s disease
b. hurler syndrome
c. cystinuria

Answer 26

hurler syndrome

Question 27

where does serotonin produced from

a. tyrosine
b. tyrptophan
c. phenylalanine

Answer 27

tryptophan

serotonin is produced form tryptophan by the argentaffin cells

Question 28

false positive in cyanide nitroprusside test is associated with presence of

a. blood
b. nitrite
c. ketones

Answer 28

false POSITIVE result in cyanide nitroprusside test is associated with the presence of ketones and homocysteine

Question 29

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

Answer 29

if 24 hour urine sample is used in 5- HIAA measurement the sample must be preserved in boric acid or hydrochloric

Question 30

what disorder is lack of enzyme HYPOXANTINE GUANINE PHOSPHORIBOSYL TRANSFERASE

a. alkaptonuria
b. lesch- nylan syndrome
b. hartnup’s disease

Answer 30

lesch nylan syndrome

Question 31

orange sand diapers

a. hartnup’s disease
b. lesch nylan disease
c. hurler syndrome

Answer 31

hartnup’s disease
- BLUE DIAPER SYNDROME

LESCH NYLAN DISEASE
- ORANGE SAN DIAPER

hurler syndrome
- cornea of the eye

Question 32

first sign to be seen in lesch nylan disease

a. hematuria
b, uric acid crystals
c. calcium oxalate
d. cysteine

Answer 32

uric acid crystals resembling orange sand diapers

Question 33

burgundy urine/ purple urine

a. porphyrin disorder
b. mucopolysaccharide disorders
c. sanfilippo syndrome

Answer 33

porphyrin disorder

urine color - red / puple / burgundy red / port wine / purplish red

Question 34

colorless in lead poisoning

a. porphyrin disorder
b. mucopolysaccharide disorders
c. sanfilippo syndrome

Answer 34

porphyrin disorder

Question 35

which of the following disease is carbohydrate disorder

a. galactosuria
b. lead poisoning
c. hurler syndrome
d. lesch nylan disease

Answer 35

carbohydrate disorder

melituria - presence of urinary sugar
galactosuria - inability to metabolize galactose to glucose

Question 36

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

Answer 36

porphyria cutanea tarda - elevated in uroporphyrin