Metabolic Flashcards

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

A. Immature liver function

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7
Q
  1. 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
  1. An overflow disorder that could produce a false postive reaction with clinitest procedure
    A. Cystinuria
    B. Alkaptonuria
    C. Indicanuria
    D. Porphyrinuria
A

B. Alkaptonuria

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9
Q
  1. 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. Alkaptonuria and C. Melanuria

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10
Q
  1. 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
  1. 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
  1. 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
  1. 5-HIAA is a degradation product of:
    A. Heme
    B. Indole
    C. Serotonin
    D. Melanin
A

C. Serotonin

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14
Q
  1. 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
  1. 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
  1. Blue diaper syndrome is associated with:
    A. Lesch-Nyhan syndrome
    B. Phenylketonuria
    C. Cystinuria
    D. Hartnup disease
A

D. Hartnup disease

17
Q
  1. Homocystinuria is caused by failure to metabolize:
    A. Lysine
    B. Methionine
    C. Arginine
    D. Cystine
A

B. Methionine

18
Q
  1. The Ehrlich reaction will detect only the presence of:
    A. Uroporphyrin
    B. Porphobilinogen
    C. Coproporphyrin
    D. Protoporphyrin
A

B. Porphobilinogen

19
Q
  1. Acetyl acetone is added to the urine before performing the Erlich test when checking for
    A. Aminolevulinic acid
    B. Porphobilinogen
    C. Uroporphyrin
    D. Coproporphyrin
A

B. Porphobilinogen

20
Q
  1. The classic urine color associated with porphyria is:
    A. Dark yellow
    B. Indigo blue
    C. Pink
    D. Port wine
A

D. Port wine

21
Q
  1. 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

22
Q
  1. The two stages of heme formation affected by lead poisoning are:
    A. Porphobilinogen and uroporphyrin
    B. Aminolevulinic acid and porphobilingen
    C. Coproporphyrin and protoporphyrin
    D. Aminolevulinic acid and protoporphyrin
A

D. Aminolevulinic acid and protoporphyrin

23
Q
  1. Huer Huntering anlip mdomes are hereditary
    A. Porphyrins
    B. Purines
    C. Mucopolysaccharides
    D. Tryptophan
A

C. Mucopolysaccharides

24
Q
  1. 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

25
Q
  1. Deficiency of the GALT enzyme will produce a:
    A. Positive Clinitest
    B. Glycosuria
    C. Galactosemia
    D. Both A and C
A

D. Both A. Positive Clinitest and C. Galactosemia