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Analysis on Urine and other Bodily Fluids > Book: Urine Metabolic Disorders > Flashcards

Book: Urine 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

Modifications of diet

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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

Melanuria

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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

Blood specimen

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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

Melanuria

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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

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

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

MSUD

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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

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

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

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

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

Tryptophan

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13
Q

5-HIAA is a degradation product of:

A. Heme
B. Indole
C. Serotonin
D. Melanin

A

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

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

Bananas

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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

Hartnup disease

18
Q

Homocystinuria is caused by failure to metabolize:

A. Lysine
B. Methionine
C. Arginine
D. Cystine

A

Methionine

19
Q

The Ehrlich reaction will only detect the presence of:

A. Uroporphyrin
B. Porphobilinogen
C. Coproporphyrin
D. Protoporphyrin

A

Porphobilinogen

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

Porphobilinogen

21
Q

The classic urine color associated with porphyria is:

A. Dark yellow
B. Indigo blue
C. Pink
D. Port wine

A

Port wine

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

All of the above

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

Aminolevulinic acid and protoporphyrin

24
Q

Hurler, Hunter, and Sanfilippo syndromes are hereditary disorders affecting metabolism of:

A. Porphyrins
B. Purines
C. Mucopolysaccharides
D. Tryptophan

A

Mucopolysaccharides

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

Lesch-Nyhan disease

26
Q

Deficiency of the GALT enzyme will produce a:

A. Positive Clinitest
B. Glycosuria
C. Galactosemia
D. Both A and C

A

Both A and C

27
Q

Match the metabolic urine disorders with their classic
urine abnormalities

PKU
Indicanuria
Cystinuria
Alkaptonuria
Lesch-Nyhan disease
Isovaleric acidemia

A

Mousy odor
Blue color
Sulfur odor
Black color
Orange sand in diaper
Sweaty feet odor

Analysis on Urine and other Bodily Fluids (17 decks)

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