UA CH 9 URINE SCREENING FOR METABOLIC DISORDERS
1. Phenylketonuria is caused by: A) excessive ingestion of milk products containing phenylalanine B) inability to metabolize tyrosine C) lack of the enzyme phenylalanine hydroxylase D) a mousy odor in the urine
C
11. A false-positive reaction for urinary ketones could be present in: A) maple syrup urine disease B) PKU C) melanuria D) organic acidemia
C
14. A disease that causes large amounts of branched-chain amino acids to be excreted in the urine is: A) Hurler's syndrome B) cystinuria C) maple syrup urine disease D) alkaptonuria
C
15. Urine with an odor of "sweaty feet" and a positive ketone test indicates: A) cystinuria B) alkaptonuria C) organic acidemia D) tyrosyluria
C
18. The finding of persistent ketonuria in a newborn is: A) of no significance B) indicative of juvenile diabetes mellitus C) associated with methylmalonic aciduria D) seen with severe lead poisoning
C
20. The presence of maple syrup urine disease is first suspected by the presence of abnormal urine: A) color B) protein C) odor D) amino acids
C
21. Under normal conditions, tryptophan that is not reabsorbed in the intestine is removed from the body as: A) indican in the urine B) indole in the liver C) indole in the feces D) serotonin in the urine
C
23. The finding of a "blue diaper" is indicative of a defect in the metabolism of: A) phenylalanine B) tyrosine C) tryptophan D) cystine
C
26. Abnormal amounts of indigo blue in the urine are indicative of a defect in the metabolism of: A) phenylalanine B) tyrosine C) tryptophan D) cystine
C
31. Chemical screening tests for cystine produce false-positive results in the presence of urinary ketones because: A) cystine is not reduced by sodium cyanide B) cystine should be tested using only chromatography C) the test reagent is nitroprusside D)cystinuria causes diabetic ketosis
C
32. Porphyrins are intermediary compounds in the formation of: A) amino acids B) serotonin C) heme D) bilirubin
C
41. All of the following porphyrin compounds can be found in urine except: A) aminolevulinic acid B) coproporphyrin C) protoporphyrin D) uroporphyrin
C
43. The appearance of abnormal metabolites in the urine due to a defect categorized as an "overflow type" may be caused by all of the following except: A) inborn errors of metabolism B) serum concentrations exceeding the Tm C) abnormalities in the tubular reabsorption mechanism D) disruption of normal enzyme function by exposure to toxic substances
C
47. All of the following are metabolic rather than renal disorders except: A) tyrosyluria B) maple syrup urine disease C) cystinuria D) indicanuria
C
Choose the characteristic odor for the following disorders: 73. Phenylketonuria A) sweet B) sulfur C) mousy D) sweaty feet
C
5. All of the following disorders are caused by defects in the phenylalanine-tyrosine pathway except: A) alkaptonuria B) Hartnup's disease C) tyrosyluria D)PKU
B
56. The 2,4-dinitrophenylhydrazine reaction is the confirmatory test for maple syrup urine disease. A) True B) False
B
58. Both cystine and leucine crystals are present in the urine of patients with cystinuria. A) True B) False
B
60. Uric acid crystals are frequently seen in the urine of pediatric patients. A) True B) False
B
61. The presence of a thick white turbidity in the CTAB test is indicative of Lesch-Nyhan disease. A) True B) False
B
62. A negative reagent strip test for glucose and a positive Clinitest on a pregnant woman are associated with gestational diabetes. A) True B) False
B
8. Inhibition of bacterial growth in the Guthrie test should be interpreted as: A) positive for tyrosyluria B) the patient lacks phenylalanine hydroxylase C) negative for PKU D) indicative of maple syrup urine disease
B
13. Confirmation of maple syrup urine disease is made on the basis of: A) urine color B) a positive 2,4-dinitrophenylhydrazine test C) a positive ferric chloride test D) MS/MS
D
17. Which of the following reacts with p-nitroaniline to produce an emerald-green color? A) Isovaleric acid B) Phenylpyruvic acid C) Isocaproic acid D) Methylmalonic acid
D
24. Analysis of urine from an infant whose mother reported a blue staining on the diapers showed increased levels of indican and a generalized aminoaciduria. On the basis of these findings, the infant was diagnosed as having: A) an intestinal obstruction B) a protein malabsorption syndrome C) Fanconi's syndrome D)Hartnup's disease
D
27. The finding of increased amounts of the serotonin degradation product 5-HIAA in the urine indicates: A) platelet disorders B) intestinal obstruction C) malabsorption syndromes D) argentaffin cell tumors
D
29. To differentiate between cystinuria and homocystinuria, the urine should be tested with: A) cyanide nitroprusside B) ferric chloride C) Clinitest D) silver nitroprusside
D
35. All of the following porphyrin compounds will exhibit fluorescence under ultraviolet light except: A) protoporphyrin B) uroporphyrin C) coproporphyrin D) porphobilinogen
D
42. The concept of vampires is associated with: A) cystinosis B) Hunter syndrome C) Sanfilippo syndrome D) porphyrias
D
45. Hurler's and Sanfilippo's syndromes present with mental retardation and increased urinary: A) porphyrins B) amino acids C) maltose D) mucopolysaccharides
D
48. The presence of "orange sand" in an infant's diaper is indicative of: A) cystinuria B) bilirubinuria C) maple syrup urine disease D) Lesch-Nyhan disease
D
49. The acid albumin CTAB and metachromatic spot tests are used to test for: A) carbohydrates B) fecal fats C) mucopolysaccharides D) maple syrup urine disease
D
50. Fanconi's syndrome is a symptom of: A) cystinosis B) cystinuria C) Hartnup's disease D) both A and C
D
51. Mental retardation is a symptom of all of the following except: A) Hurler's syndrome B) galactosuria C) PKU D) cystinuria
D
52. Melituria refers to: A) melanin B) uric acid C) MSUD D) sugar
D
53. GALT deficiency is a disorder affecting the metabolism of: A) glucose B) fructose C) lactose D)galactose
D
6. Initial screening for PKU performed on newborns before their discharge from the hospital uses a blood sample rather than a urine sample because: A) urine samples are more difficult to collect B) serum bilirubin levels are routinely measured on all newborns C) it is easier to measure phenylalanine than phenylpyruvic acid D) increased serum phenylalanine can be detected earlier
D
7. A routine urinalysis is performed on a specimen that has turned dark after standing in the laboratory. The urine is acidic and has negative chemical tests except for the appearance of a red color on the ketone area of the reagent strip. One should suspect: A) PKU B) diabetic ketosis C) alkaptonuria D)melanuria
D
Select the appropriate screening test result for the following disorders 69. Tyrosyluria A) nitroso-naphthol B) Acetest C) silver nitroprusside D) p-nitroaniline
A
Select the appropriate screening test result for the following disorders: 68. PKU A) ferric chloride B) Clinitest C) Acetest D) nitroso-naphthol
A
State what action the urinalysis supervisor could take in the following situations: 82. Many uric acid crystals are reported in the urine of a 15-year-old boy with an unremarkable medical history, except for previous episodes of renal calculi. A) check for possible cystine crystals B) check for specimen mix-up C) notify the health-care provider D)report possible Lesch-Nyhan disease
A
38. The presence of porphobilinogen in the urine can be suspected when: A) acidic urine turns a port wine color after standing B) alkaline urine turns a port wine color after standing C) freshly excreted urine is acidic and port wine in color D) freshly excreted urine is alkaline and port wine in color
A
4. Which of the following disorders results in the accumulation of large amounts of homogentisic acid in the urine? A) Alkaptonuria B) Tyrosyluria C) PKU D) Homocystinuria
A
44. Characteristic urine odors are associated with all of the following disorders except: A) alkaptonuria B) PKU C) maple syrup urine disease D) isovaleric acidemia
A
54. Failure of a metabolic pathway to reach completion may be caused by an inborn error of metabolism. A) True B) False
A
55. Persons diagnosed with PKU should avoid foods containing aspartame. A) True B)False
A
57. Argentaffin cell tumors produce large amounts of serotonin. A) True B)False
A
59. The free erythrocyte protoporphyrin test is the recommended screening test for lead poisoning. A) True B) False
A
9. In a positive Guthrie test: A) bacterial growth occurs around the positive control disc and the patient disc B) bacterial growth occurs around the positive control disc but not around the patient disc C) no bacterial growth occurs around either disc D) bacterial growth occurs only around the negative control disc
A
12. A positive Clinitest reaction is seen in patients with: A) alkaptonuria B) melanuria C) cystinuria D) tyrosyluria
A
16. The types of organic acidemias include all of the following except: A) 5-HIAA B) isovaleric C) propionic D) methylmalonic
A
19. A urinalysis and a DNPH test are performed on an infant who is failing to thrive. If the DNPH test is positive, what result in the urinalysis will also be positive? A) Ketones B) Glucose C) Protein D) Bilirubin
A
2. The Guthrie test is a: A) bacterial inhibition test B) fluorometric procedure C) chemical procedure measured by spectrophotometer D) bacterial agglutination test
A
22. The presence of argentaffin cell tumors can be detected by the presence in the urine of: A) 5-HIAA B) melanin C) homogentisic acid D) serotonin
A
3. The abnormal metabolite that is present in the urine in alkaptonuria is: A) homogentisic acid B) alkaptonpyruvate C) phenylpyruvate D)tyrosine
A
33. The specimen of choice when testing for protoporphyrin is: A) blood B) urine C) bile D) feces
A
37. Symptoms of inherited porphyrias include all of the following except: A) Fanconi's syndrome B) neurologic C) psychiatric D)photosensitivity
A
Choose cystinuria or cystinosis as the best match for the following statements of the condition: 64. Defective reabsorption of cystine, lysine, ornithine, and arginine A) cystinuria B) cystinosis
A
Choose cystinuria or cystinosis as the best match for the following statements of the condition: 65. Tendency to form renal calculi A) cystinuria B) cystinosis
A
Choose the characteristic odor for the following disorders: 74. Cystinosis A) sulfur B) sweet C) sweaty feet D) mousy
A
10. The presence of unusually fair complexions is a characteristic of phenylketonuria because: A) phenylalanine is not produced B) tyrosine is not available for conversion to melanin C) melanin is converted to homogentisic acid D) phenylalanine disrupts liver function
B
25. A false-positive test for 5-HIAA may result if the patient: A) does not collect a complete 24-hour urine B) does not receive appropriate diet instructions C) fails to fast prior to specimen collection D) stores the specimen in the refrigerator overnight
B
28. The silver nitroprusside test detects the presence of: A) propionic acid B) homocystine C) uroporphyrin D) cystine
B
30. Patients who produce kidney stones at an early age should be tested for the presence of: A) organic acidemia B) cystinuria C) maple syrup urine disease D) PKU
B
34. All of the following are primary porphyrins except: A) uroporphyrin B) porphobilinogen C) protoporphyrin D)coproporphyrin
B
36. The most common cause of acquired porphyria is: A) alcoholism B) lead poisoning C) iron-deficiency anemia D) liver failure
B
39. Urine from a child suspected of having lead poisoning has a red fluorescence under Wood's lamp. This finding is: A) inconsistent with lead poisoning because porphobilinogen does not fluoresce B) consistent with lead poisoning because coproporphyrin fluoresces under ultraviolet light C) consistent with lead poisoning only if uroporphyrin is also increased D) consistent only if protoporphyrin can be demonstrated using Ehrlich's reagent
B
40. Which of the following compounds does not react directly with either Ehrlich's reagent or fluorescence? A) Uroporphyrin B) Aminolevulinic acid C) Coproporphyrin D) Porphobilinogen
B
46. The presence of urinary reducing substances is of particular concern in: A) pregnant women B) newborns C) adolescent males D) menopausal women
B
Choose cystinuria or cystinosis as the best match for the following statements of the condition 63. True inborn of metabolism A) cystinuria B)cystinosis
B
Choose cystinuria or cystinosis as the best match for the following statements of the condition: 66. Fanconi's syndrome A) cystinuria B)cystinosis
B
Choose cystinuria or cystinosis as the best match for the following statements of the condition: 67. Generalized aminoaciduria A) cystinuria B) cystinosis
B
Choose the characteristic odor for the following disorders: 75. Isovaleric academia A) mousy B) sweaty feet C) sulfur D) aromatic
B
Select the appropriate screening test result for the following disorders: 70. Methylmalonic academia A) ferric chloride B) p-Nitroaniline C) cyanide-nitroprusside D) Clinitest
B
State what action the urinalysis supervisor could take in the following situations: 80. An employee reports a negative ferric chloride test on a suspected case of tyrosyluria. A) perform an Ehrlich test B) repeat the ferric chloride test C) request a new specimen D) perform an Acetest
B
State what action the urinalysis supervisor could take in the following situations: 83. A new employee consistently obtains negative Watson-Schwartz test results on suspected cases of lead poisoning. A) check the Ehrlich reagent B) confirm addition of acetylacetone C) confirm the specimen has been centrifuged D) check the employee for color-blindness
B
The following urinalysis results are obtained from a newborn: Color: Dark brown Protein: Negative Blood: Negative Clarity: Hazy Glucose: Negative Urobilinogen: 0.4 EU Specific gravity: 1.020 Ketones: Large Nitrite: Negative pH: 6.0 Bilirubin: Negative Leukocyte esterase: Negative Clinitest: Negative 78. What screening test should be performed on this specimen? A) p-nitroaniline B) DNPH C) Nitroso-naphthol D) Both B and C
B
Select the appropriate screening test result for the following disorders: 71. Homocystinuria A) cyanide-nitroprusside B) Acetest C) silver nitroprusside D) Ehrlich's reaction
C
State what action the urinalysis supervisor could take in the following situations: 81. An employee questions the finding of a positive glucose on a yellow-blue urine from an underweight child with a normal blood glucose. A) request a new specimen B) perform a Clinitest C) check for possible Hartnup's disease diagnosis D) check for possible juvenile diabetes mellitus
C
The following urinalysis results are obtained from a newborn: Color: Dark brown Protein: Negative Blood: Negative Clarity: Hazy Glucose: Negative Urobilinogen: 0.4 EU Specific gravity: 1.020 Ketones: Large Nitrite: Negative pH: 6.0 Bilirubin: Negative Leukocyte esterase: Negative Clinitest: Negative 77. What additional unusual characteristic might be found in this urine? A) Uric acid crystals B) RTE cells C) Odor D) Positive Clinitest
C
The following urinalysis results are obtained from a newborn: Color: Dark brown Protein: Negative Blood: Negative Clarity: Hazy Glucose: Negative Urobilinogen: 0.4 EU Specific gravity: 1.020 Ketones: Large Nitrite: Negative pH: 6.0 Bilirubin: Negative Leukocyte esterase: Negative Clinitest: Negative 79. What is the infant's most probable disorder? A) Lesch-Nyhan disease B) Isovaleric academia C) MSUD D) Tyrosyluria
C
Choose the characteristic odor for the following disorders: 76. Maple syrup urine disease A) mousy B) ammonia C) sulfur D) sweet
D
Select the appropriate screening test result for the following disorders: 72. Hurler's syndrome A) ferric chloride B) Clinitest C) nitroso-naphthol D) CTAB test
D
State what action the urinalysis supervisor could take in the following situations: 84. A student performing the Clinitest obtains a positive result on a hospitalized adult male patient. A) observe the student performing the test B) check for parenteral feeding C) check the patient's history for alkaptonuria D) both B and C
D
