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STRASINGER > Chapter 8 Urine Screening for Metabolic Disorders > Flashcards

Chapter 8 Urine Screening for Metabolic Disorders Flashcards

1
Q 
All states require newborn screening for PKU for early:
A. Modifications of diet
B. Administration of antibiotics
C. Detection of diabetes
D. Initiation of gene therapy
A

A

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2
Q 
All of the following disorders can be detected by newborn screening except:
A. Tyrosyluria
B. MSUD
C. Melanuria
D. Galactosemia
A

C

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3
Q 
The best specimen for early newborn screening is a:
A. Timed urine specimen
B. Blood specimen
C. First morning urine specimen
D. Fecal specimen
A

B

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4
Q 
Abnormal urine screening tests categorized as an overflow disorder include all of the following except:
A. Alkaptonuria
B. Galactosemia
C. Melanuria
D. Cystinuria
A

C

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5
Q 
Which of the following disorders is not associated with the phenylalanine-tyrosine pathway?
A. MSUD
B. Alkaptonuria
C. Albinism
D. Tyrosinemia
A

A

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6
Q 
The least serious form of tyrosylemia is:
A. Immature liver function
B. Type 1
C. Type 2
D. Type 3
A

A

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7
Q 
An overflow disorder of the phenylalanine-tyrosine pathway that would produce a positive reaction with the reagent strip test for ketones is:
A. Alkaptonuria
B. Melanuria
C. MSUD
D. Tyrosyluria
A

C

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8
Q 
An overflow disorder that could produce a false-positive reaction with Clinitest procedure is:
A. Cystinuria
B. Alkaptonuria
C. Indicanuria
D. Porphyrinuria
A

B

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9
Q 
A urine that turns black after sitting by the sink for several hours could be indicative of:
A. Alkaptonuria
B. MSUD
C. Melanuria
D. Both A and C
A

D

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10
Q 
Ketonuria in a newborn is an indication of:
A. MSUD
B. Isovaleric acidemia
C. Methylmalonic acidemia
D. All of the above
A

D

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11
Q 
Urine from a newborn with MSUD will have a significant:
A. Pale color
B. Yellow precipitate
C. Milky appearance
D. Sweet odor
A

D

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12
Q 
Hartnup disease is a disorder associated with the metabolism of:
A. Organic acids
B. Tryptophan
C. Cystine
D. Phenylalanine
A

B

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13
Q 
5-HIAA is a degradation product of:
A. Heme
B. Indole
C. Serotonin
D. Melanin
A

C

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14
Q 
Elevated urinary levels of 5-HIAA are associated with:
A. Carcinoid tumors
B. Hartnup disease
C. Cystinuria
D. Platelet disorders
A

A

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15
Q 
False-positive levels of 5-HIAA can be caused by a diet
high in:
A. Meat
B. Carbohydrates
C. Starch
D. Bananas
A

D

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16
Q

Place the appropriate letter in front of the following statements.

A. Cystinuria
B. Cystinosis

\_\_\_\_ IEM
\_\_\_\_ Inherited disorder of tubular reabsorption
\_\_\_\_ Fanconi syndrome
\_\_\_\_ Cystine deposits in the cornea
\_\_\_\_ Early renal calculi formation
A 
B 
A
B
B
A
17
Q 
Blue diaper syndrome is associated with:
A. Lesch-Nyhan syndrome
B. Phenylketonuria
C. Cystinuria
D. Hartnup disease
A

D

18
Q 
Homocystinuria is caused by failure to metabolize:
A. Lysine
B. Methionine
C. Arginine
D. Cystine
A

B

19
Q 
The Ehrlich reaction will only detect the presence of:
A. Uroporphyrin
B. Porphobilinogen
C. Coproporphyrin
D. Protoporphyrin
A

B

20
Q 
Acetyl acetone is added to the urine before performing the Ehrlich test when checking for:
A. Aminolevulinic acid
B. Porphobilinogen
C. Uroporphyrin
D. Coproporphyrin
A

B

21
Q 
The classic urine color associated with porphyria is:
A. Dark yellow
B. Indigo blue
C. Pink
D. Port wine
A

D

22
Q 
Which of the following specimens can be used for porphyrin testing?
A. Urine
B. Blood
C. Feces
D. All of the above
A

D

23
Q

The two stages of heme formation affected by lead poisoning are:
A. Porphobilinogen and uroporphyrin
B. Aminolevulinic acid and porphobilinogen
C. Coproporphyrin and protoporphyrin
D. Aminolevulinic acid and protoporphyrin

A

D

24
Q 
Hurler, Hunter, and Sanfilippo syndromes are hereditary disorders affecting metabolism of:
A. Porphyrins
B. Purines
C. Mucopolysaccharides
D. Tryptophan
A

C

25
Q 
Many uric acid crystals in a pediatric urine specimen may indicate:
A. Hurler syndrome
B. Lesch-Nyhan disease
C. Melituria
D. Sanfilippo syndrome
A

B

26
Q 
Deficiency of the GALT enzyme will produce a:
A. Positive Clinitest
B. Glycosuria
C. Galactosemia
D. Both A and C
A

D

27
Q

Match the metabolic urine disorders with their classic
urine abnormalities.

\_\_\_\_ PKU 
\_\_\_\_ Indicanuria 
\_\_\_\_ Cystinuria 
\_\_\_\_ Alkaptonuria 
\_\_\_\_ Lesch-Nyhan disease 
\_\_\_\_ Isovaleric acidemia 
A. Sulfur odor
B. Sweaty feet odor
C. Orange sand in diaper
D. Mousy odor
E. Black color
F. Blue color
A 
D
F
A
E
C
B
28
Q

A premature infant develops jaundice. Laboratory tests are negative for hemolytic disease of the newborn, but
the infant’s bilirubin level continues to rise. Abnormal urinalysis results include a dark yellow color, positive bilirubin, and needle-shaped crystals seen on microscopic examination.

a. What is the most probable cause of the infant’s jaundice?
b. Could these same urine findings be associated with an adult? Explain your answer.
c. What kinds of crystals are present? Name another type of crystal with a spherical shape that is associated with this condition.
d. When blood is drawn from this infant, what precaution should be taken to ensure the integrity of the specimen?

A

a. Underdevelopment of the liver.
b. Yes, with severe acquired liver disease.
c. Tyrosine crystals; leucine crystals, bilirubin crystals.
d. Protect the specimen from light

29
Q

A newborn develops severe vomiting and symptoms of metabolic acidosis. Urinalysis results are positive for ketones and negative for glucose and other reducing substances.

a. If the urine had an odor of “sweaty feet,” what metabolic disorder would be suspected?
b. If the newborn was producing dark brown urine with a sweet odor, what disorder would be suspected?
c. Would an MS/MS screen be helpful for the diagnosis?

A

a. Isovaleric acidemia.
b. Maple syrup urine disease.
c. Yes, the MS/MS screen would be positive.

30
Q

A 13-year-old boy is awakened with severe back and abdominal pain and is taken to the emergency department by his parents. A complete blood count is normal. Family history shows that both his father and uncle are chronic kidney stone formers. Results of a urinalysis are as follows:

COLOR: Yellow 
KETONES: Negative
APPEARANCE: Hazy 
BLOOD: Moderate
SP. GRAVITY: 1.025 
BILIRUBIN: Negative
pH: 6.0 
UROBILINOGEN: Normal
PROTEIN: Negative 
NITRITE: Negative
GLUCOSE: Negative 
LEUKOCYTE: Negative

Microscopic:
>15–20 RBCs/hpf Few squamous epithelial cells
0–3 WBCs/hpf Many cystine crystals

a. What condition does the patient’s symptoms represent?
b. What is the physiologic abnormality causing this condition?
c. If amino acid chromatography was performed on this specimen, what additional amino acids could be present?
d. Why are they not present in the microscopic constituents?
e. Based on the family history, what genetic disorder should be considered?

A

a. Renal lithiasis
b. Impaired renal tubular reabsorption of cystine
c. Lysine, arginine, ornithine
d. They are more soluble than is cystine
e. The disorder is inherited.

31
Q

An 8–month-old boy is admitted to the pediatric unit with a general diagnosis of failure to thrive. The parents have observed slowness in the infant’s development of motor skills. They also mention the occasional appearance of a substance resembling orange sand in the child’s diapers. Urinalysis results are as follows:

COLOR: Yellow 
KETONES: Negative
APPEARANCE: Slightly hazy
BLOOD: Negative 
SP. GRAVITY: 1.024 
BILIRUBIN: Negative
pH: 5.0 
UROBILINOGEN: Normal
PROTEIN: Negative
NITRITE: Negative
GLUCOSE: Negative 
LEUKOCYTE: Negative

Microscopic:
Many uric acid crystals

a. Is the urine pH consistent with the appearance of uric acid crystals?
b. Is there any correlation between the urinalysis results and the substance observed in the child’s diapers? Explain your answer.
c. What disorder do the patient’s history and the urinalysis results indicate?
d. Is the fact that this is a male patient of any significance? Explain your answer.
e. Name the enzyme that is missing.

A

a. Yes.
b. Yes, uric acid crystals accumulating on the surface of the diaper could have an orange color.
c. Lesch-Nyhan disease.
d. Yes, the disease is inherited as a sex linked recessive.
e. Hypoxanthine guanine phosphoribosyltransferase.

32
Q

Shortly after arriving for the day shift in the urinalysis laboratory, a technician notices that an undiscarded urine has a black color. The previously completed
report indicates the color to be yellow.

a. Is this observation significant? Explain your answer.
b. The original urinalysis report showed the specimen to be positive for ketones. Is this significant? Why or why not?
c. If the ketones are negative and the pH is 8.0 is this significant? Why or why not?

A

a. Yes. The urine may contain melanin or homogentisic acid.
b. Yes. Melanin will react with sodium nitroprusside, the reagent used on reagent strips for the detection of ketones.
c. Yes. Homogentisic acid turns black in alkaline urine.

33
Q

Bobby Williams, age 8, is admitted through the emergency department with a ruptured appendix. Although surgery is successful, Bobby’s recovery is slow, and the physicians are concerned about his health prior to the ruptured appendix. Bobby’s mother states that he has always been noticeably underweight despite eating a balanced diet and having strong appetite and that his younger brother exhibits similar characteristics. A note
in his chart from the first postoperative day reports that the evening nurse noticed a blue coloration in the urinary catheter bag.

a. Is the catheter bag color significant?
b. What condition can be suspected from this history?
c. What is Bobby’s prognosis?

A

a. Yes, the purple blue color could indicate the presence of indican in the urine.
b. Hartnup disease.
c. Good with proper dietary supplements.

34
Q

An anemic patient is suspected of having lead poisoning.

a. What historical urine test was requested?
b. What should be added to the urine before testing?
c. What element of heme synthesis would this be testing for?
d. Name another substance that can be tested for lead poisoning.
e. What element of heme synthesis would this test for?

A

a. The Ehrlich reaction
b. Acetylacetone.
c. Porphobilinogen.
d. Blood.
e. Free erythocyte protoporphyrin (FEP).

STRASINGER (3 decks)

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