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clinical microscopy > urine screening for metabolic disorder > Flashcards

urine screening for metabolic disorder Flashcards

1
Q

enzyme deficient in phenylketonuria

a. tyrosinemia
b. fumarylacetoacetate
c. phenylalanine hydroxylase

A

phenylketonuria

enzyme deficient - phenylalanine hydroxylase

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2
Q

what disorder has a rancid butter disorder

a. phenylketonuria
b. tyrosinemia
c, alkaptonuria

A

tyrosinemia

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3
Q

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

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

A

phenylketonuria

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4
Q

what disorder is associated with mental retardation

a. phenylketonuria
b. alkaptinuria
c. tyrosinemia

A

phenyketonuria

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5
Q

what type of tyrosinemia has an enzyme deficient TYROSINE AMINOTRANSFERASE

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

A

type 1 - fumarylaceto acetae hydrolase

type 2 - tyrosine aminotransferase

type 3 - p-hydroxyphenylpyruvic acid dioxygenase

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6
Q

what is the enzyme deficient in alkaptonuria

a. homogentisic acid oxidase
b. melanuria
c. tyrosine

A

homogentisic acid oxidase

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7
Q

melanin is produced form?

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

A

tyrosine

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8
Q

deficient in production of melanin

a. albinism
b. mental retardation
c. msud

A

albinism

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9
Q

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

a. phenylketonuria
b. alkaptonuria
c. melanuria

A

alkaptonuria

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10
Q

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

A

5-6 dihydroxyindole

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11
Q

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

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

A

slowly add 5 drops of 10% FeCl

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12
Q

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

a. msud
b. isovaleric acidemias
c. melanuria

A

msud

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13
Q

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
A

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

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14
Q

what amino acid disorder ha s a sweaty feet disoders

a. tyrosinemia
b. acidemias
c. msud

A

acidemias

  1. isovaleric acidemias
  2. propionic acidemias
  3. methylmalnic acidemia
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15
Q

which of the following is associated with melanuria

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

A

tyrosine

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16
Q

blue diaper syndrome

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

A

hartnup’s disease

17
Q

indigo blue color urine

a. indicanuria
b. acidemia’s
c. argentaffinoma

A

indicaduria

18
Q

what disorder is excess production of serotonin

a. indicaduria
b. argentaffinoma
c. acidemia’s

A

argentaffinoma

19
Q

which of the following is tryptophan disorder

a. indicaduria
b. melanuria
c. cystinuria

A

indicaduria

20
Q

defects in the metabolism of methionine that leads to increase homocysteine

a. cystinosis
b. cystinuria
b. homocystinuria

A

homocystinuria

– no cystine , but meron methionine

21
Q

what urine sample to be used in silver nitroprusside test

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

A

fresh urine

22
Q

what disorder to be use is sodium nitroprusside test

a. cystinosis
b. cystinuria
c. homocystinuria

A

homocystinuria

23
Q

mucopolysaccharides accumulate in the cornea of the eye

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

A

hurler syndrome

24
Q

sex linked recessive, rarely seen in females

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

A

hunter syndrome

25
Q

what mucopolysaccharide disorder has a mental retardation

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

A

sanfilippo syndrome

26
Q

which of the following disorder is mucopolysaccharide

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

A

hurler syndrome

27
Q

where does serotonin produced from

a. tyrosine
b. tyrptophan
c. phenylalanine

A

tryptophan

serotonin is produced form tryptophan by the argentaffin cells

28
Q

false positive in cyanide nitroprusside test is associated with presence of

a. blood
b. nitrite
c. ketones

A

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

29
Q

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

A

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

30
Q

what disorder is lack of enzyme HYPOXANTINE GUANINE PHOSPHORIBOSYL TRANSFERASE

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

A

lesch nylan syndrome

31
Q

orange sand diapers

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

A

hartnup’s disease
- BLUE DIAPER SYNDROME

LESCH NYLAN DISEASE
- ORANGE SAN DIAPER

hurler syndrome
- cornea of the eye

32
Q

first sign to be seen in lesch nylan disease

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

A

uric acid crystals resembling orange sand diapers

33
Q

burgundy urine/ purple urine

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

A

porphyrin disorder

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

34
Q

colorless in lead poisoning

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

A

porphyrin disorder

35
Q

which of the following disease is carbohydrate disorder

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

A

carbohydrate disorder

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

36
Q

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

A

porphyria cutanea tarda - elevated in uroporphyrin

clinical microscopy (14 decks)

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