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2A STRASINGER CHAPTER QUESTIONS > 9 URINE SCREENING FOR METABOLIC DISORDERS > Flashcards

9 URINE SCREENING FOR METABOLIC DISORDERS Flashcards

1
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. Melanuria

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2
Q

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

A

A. Modifications of the diet

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3
Q

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

A

C. Melanuria

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4
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. Blood specimen

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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. MSUD

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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. Immature liver function

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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. MSUD

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8
Q

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

A

B. Alkaptonuria

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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. Both A and C

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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. All of the above

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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. Sweet odor

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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. Tryptophan

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13
Q

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

A

C. Serotonin

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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. Carcinoid tumors

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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. Bananas

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16
Q

Indicate whether the following are associated with:
(A) Cystinuria
(B) Cystinosis

IEM

A

(B) Cystinosis

17
Q

Indicate whether the following are associated with:
(A) Cystinuria
(B) Cystinosis

Inherited disorder of tubular reabsorption

A

(A) Cystinuria

18
Q

Indicate whether the following are associated with:
(A) Cystinuria
(B) Cystinosis

Fanconi syndrome

A

(B) Cystinosis

19
Q

Indicate whether the following are associated with:
(A) Cystinuria
(B) Cystinosis

Cystine deposits in the cornea

A

(B) Cystinosis

20
Q

Indicate whether the following are associated with:
(A) Cystinuria
(B) Cystinosis

Early renal calculi formation

A

(A) Cystinuria

21
Q

Blue diaper syndrome is associated with:
A. Lesch-Nyhan syndrome
B. Phenylketonuria
C. Cystinuria
D. Hartnup disease

A

D. Hartnup disease

22
Q

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

A

B. Methionine

23
Q

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

A

B. Porphobilinogen

24
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. Porphobilinogen

25
Q

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

A

D. Port wine

26
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. All of the above

27
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. Aminolevulinic acid and protoporphyrin

28
Q

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

A

C. Mucopolysaccharides

29
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. Lesch-Nyhan disease

30
Q

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

A

D. Both A and C

31
Q

Match the metabolic urine disorders with their classic urine abnormalities:

PKU

A. Sulfur odor
B. Sweaty feet odor
C. Orange sand in diaper
D. Mousy odor
E. Black color
F. Blue color

A

D. Mousy odor

32
Q

Match the metabolic urine disorders with their classic urine abnormalities:

Indicanuria

A. Sulfur odor
B. Sweaty feet odor
C. Orange sand in diaper
D. Mousy odor
E. Black color
F. Blue color

A

F. Blue color

33
Q

Match the metabolic urine disorders with their classic urine abnormalities:

Cystinuria

A. Sulfur odor
B. Sweaty feet odor
C. Orange sand in diaper
D. Mousy odor
E. Black color
F. Blue color

A

A. Sulfur odor

34
Q

Match the metabolic urine disorders with their classic urine abnormalities:

Alkaptonuria

A. Sulfur odor
B. Sweaty feet odor
C. Orange sand in diaper
D. Mousy odor
E. Black color
F. Blue color

A

E. Black color

35
Q

Match the metabolic urine disorders with their classic urine abnormalities:

Lesch-Nyhan disease

A. Sulfur odor
B. Sweaty feet odor
C. Orange sand in diaper
D. Mousy odor
E. Black color
F. Blue color

A

C. Orange sand in diaper

36
Q

Match the metabolic urine disorders with their classic urine abnormalities:

Isovaleric acidemia

A. Sulfur odor
B. Sweaty feet odor
C. Orange sand in diaper
D. Mousy odor
E. Black color
F. Blue color

A

B. Sweaty feet odor

2A STRASINGER CHAPTER QUESTIONS (18 decks)

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