The quizzes about Urine Screening for Metabolic Disorders (30 tests)

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The quizzes about Urine Screening for Metabolic Disorders (30 tests)
5 (100%) 2 votes

Select the one best response to each question!

All states require newborn screening for PKU for early:


1.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

2.All of the following disorders can be detected by newborn screening except:

A. Tyrosyluria


C. Melanuria

D. Galactosemia

3.The best specimen for early newborn screening is a:

A. Timed urine specimen

B. Blood specimen

C. First morining urine specimen

D. Fecal specimen

4.Abnormal urine screening tests categorized as an overflow disorder include all of the following except:

A. Alkaptonuria

B. Galactosemia

C. Melanuria

D. Cystinuria

5.Which of the following disorders is not associated with the phenylalanine-tyrosine pathway?


B. Alkaptonuria

C. Albinism

D. Tyrosinemia

6.Urine screening tests for PKU utilize:

A. Microbial inhibition

B. Nitroso-napthol

C. Dinitrophenylhydrazine

D. Ferric chloride

7.The least serious form of tyrosylemia is:

A. Immature liver function

B. Type 1

C. Type 2

D. Type 3

8.An overflow disorder of the phenylalanine-tyrosine pathway that could produce a false-positive reaction with the reagent strip test for ketones is:

A. Alkaptonuria

B. Melanuria


D. Tyrosyluria

9.An overflow disorder that could produce a falsepositive reaction with clinitest is:

A. Cystinuria

B. Alkaptonuria

C. Indicanuria

D. Porphyrinuria

10.A urine that turns black after sitting by the sink for several hours could be indicative of:

A. Alkaptonuria


C. Melanuria

D. Both A and C

11.Ketonuria in a newborn is an indication of:


B. Isovaleric acidemia

C. Methylmalonic acidemia

D. All of the above

12.Urine from a newborn with MSUD will have a significant:

A. Pale color

B. Yellow precipitate

C. Milky appearance

D. Sweet odor

13.A substance that reacts with p-nitroaniline is:

A. Isovaleric acid

B. Propionic acid

C. Methylmalonic acid

D. Indican

14.Which of the following has a significant odor?

A. Isovaleric acidemia

B. Sweet odor Propionic acidemia

C. Methylmalonic acidemia

D. Indicanuria

15.Hartnup disease is a disorder associated with the metabolism of:

A. Organic acids

B. Tryptophan

C. Cystine

D. Phenylalanine

16.5-HIAA is a degradation product of:

A. Heme

B. Indole

C. Serotonin

D. Melanin

17.Elevated urinary levels of 5-HIAA are associated with:

A. Carcinoid tumors

B. Hartnup disease

C. Cystinuria

D. Platelet disorders

18.False-positive levels of 5-HIAA can be caused by a diet high in:

A. Meat

B. Carbohydrates

C. Starch

D. Bananas

19.Place the appropriate letter in front of the following statements.

A. Cystinuria

B. Cystinosis


____Inherited disorder of renal tubules

____Fanconi syndrome

____Cystine deposits in the cornea

____Early renal calculi formation

20.Urine from patients with cystine disorders will react with:

A. Dinitrophenylhydrazine

B. Sodium cyanide

C. Ehrlich reagent

D. 1-Nitroso-napthol

21.Blue diaper syndrome is associated with:

A. Lesch-Nyhan syndrome

B. Phenylketonuria

C. Cystinuria

D. Hartnup disease

22.Homocystinuria is caused by failure to metabolize:

A. Lysine

B. Methionine

C. Arginine

D. Cystine

23.Early detection is most valuable for correction of:

A. Homocystinuria

B. Cystinuria

C. Indicanuria

D. Porphyrinuria

24.The Ehrlich reaction will only detect the presence of:

A. Aminolevulinic acid

B. Porphobilinogen

C. Coproporphyrin

D. Protoporphyrin

25.Acetylacetone is added to the urine prior to performing the Ehrlich test when checking for:

A. Aminolevulinic acid

B. Porphobilinogen

C. Uroporphyrin

D. Coproporphyrin

26.The classic urine color associated with porphyria is:

A. Dark yellow

B. Indigo blue

C. Pink

D. Port wine

27.Which of the following specimens can be used for porphyrin testing?

A. Urine

B. Blood

C. Feces

D. All of the above

28.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

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

A. Porphyrins

B. Purines

C. Mucopolysaccharides

D. Tryptophan

30.Many uric acid crystals in a pediatric urine specimen may indicate:

A. Hurler syndrome

B. Lesch-Nyhan disease

C. Melituria

D. Sanfilippo syndrome

31.Deficiency of the GALT enzyme will produce a:

A. Positive Clinitest

B. Glycosuria

C. Galactosemia

D. Both A and C

32.Match the metabolic urine disorders with their classic urine abonormalities.

____PKU A. Sulfur odor

____Indicanuria B. Sweaty feet odor

____Cystinuria C. Orange sand in diaper

____Homogentisic acid D. Mousy odor

____Lesch-Nyhan disease E. Black color

F. Blue color

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