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Analysis of Urine and Other Body Fluids > Chapter 7 - Urine Screening for Metabolic Disorders > Flashcards

Chapter 7 - Urine Screening for Metabolic Disorders Flashcards

1
Q

2 categories of aminoaciduria

A

Overflow or renal

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2
Q

Type of aminoaciduria with increased amino acid in blood and urine

A

Overflow type

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3
Q

Type of aminoaciduria with increased amino acid in urine but normal in blood

A

Renal type

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4
Q

Identify whether the ff are overflow or renal type aminoaciduria:

  1. MSUD
  2. Cystinuria
  3. PKU
  4. Fanconi’s syndrome
A
  1. Overflow
  2. Renal
  3. Overflow
  4. Renal
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5
Q

Failure to inherit a gene that codes for a particular enzyme

A

Inborn error of metabolism (IEM)

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6
Q

Testing for many substances is now performed using _____. It is capable of screening the infant blood sample for specific substances assoc w/ particular IEMs.

A

Tandem mass spectrophotometry (MS/MS)

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7
Q

Matching type:

  1. MSUD
  2. PKU
  3. Argentaffinoma
  4. Melanuria
  5. Tyrosyluria/Tyrosinemia
  6. Indicanuria
  7. Alkaptonuria
  8. Organic acidemias
  9. Cystinosis
  10. Hunter syndrome
  11. Lesch-Nyhan syndrome
  12. Sanfilippo syndrome
  13. Fructosuria
  14. Galactosuria
  15. Cystinuria
  16. Homocystinuria
  17. Hurler syndrome
A. Phenylalanine-tyrosine disorders
B. Cystine disorders
C. Carbohydrate disorders
D. Porphyrin disorders 
E. Purine disorders
F. Mucopolysaccharide disorders
G. Branched-chain amino acid disorders
H. Tryptophan disorders
A
  1. G
  2. A
  3. H
  4. A
  5. A
  6. H
  7. A
  8. G
  9. B
  10. F
  11. E
  12. E
  13. C
  14. C
  15. B
  16. B
  17. F
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8
Q

Most well known of the aminoacidurias

A

PKU

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9
Q

In PKU, the gene that codes for the production of the enzyme _____, is absent.

A

Phenylalanine hydroxylase

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10
Q

Guthrie test is an obsolete screening test for which metabolic disorder?

A

PKU

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11
Q

Positive FeCl3 tube test for the ff:

  1. PKU
  2. Tyrosinemia
  3. Alkaptonuria
  4. Melanuria
  5. Argentaffinoma
A
  1. Blue-green
  2. Transient green
  3. Transient blue
  4. Gray/black precipitate
  5. Blue-green
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12
Q

Screening tests for PKU

A

FeCl3 tube test, phenistix strip, Guthrie bacterial inhibition test

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13
Q

Confimatory test for PKU

A

Ion exchange HPLC

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14
Q

Bacteria used in Guthrie test

A

B. subtilis

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15
Q

Regarding Guthrie test, the positive test for px w/ PKU is?

A

Bacterial growth

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16
Q

Regarding Guthrie test, what inhibits the growth of B. subtilis?

A

B2-thienylalanine

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17
Q

Regarding Guthrie test, what inhibits B2-thienylalanine?

A

Phenylalanine

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18
Q

Positive result of phenistix strip for px w/ PKU

A

Gray to gray-green

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19
Q

What type of tyrosyluria/tyrosinemia are described?

  1. Gene that codes for p-hydroxyphenylpyruvic acid dioxygenase is absent
  2. Gene that codes for tyrosine aminotransferase is absent
  3. Gene that codes for fumarylacetoacetate hydrolase
A
  1. Type 3
  2. Type 2
  3. Type 1
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20
Q

Screening tests for tyrosinemia

A

FeCl3 tube test, nitroso-naphthol

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21
Q

Confirmatory test for tyrosinemia

A

Chromatography, quantitative serum assay of tyrosine

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22
Q

Positive result for nitroso-naphthol for px w/ tyrosyluria/tyrosinemia

A

Orange-red

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23
Q

For px w/ alkpatonuria, the gene that codes for ____, is absent

A

Homogentisic acid

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24
Q

Urine darkens upon air exposure

A

Melanuria

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25
Urine darkens after becoming alkaline from standing at room temp
Alkaptonuria
26
Screening tests for alkaptonuria
FeCl3 tube test, clinitest
27
Confirmatory tests for alkaptonuria
Paper/thin layer chromatography, capillary electrophoresis
28
Reddish-stained disposable diapers
Alkaptonuria
29
Brown- or black-stained cloth diapers
Alkaptonuria
30
Caused by melanoma, tumor involving melanocytes
Melanuria
31
Regarding melanuria, tumors secrete _____, which oxidizes to melanogen then to melanin
5,6-dihydroxyindole
32
Screening tests for melanuria
FeCl3 tube test, sodium nitroprusside test, Ehrlich test
33
Positive result of clinitest for alkaptonuria
Yellow precipitate
34
Positive result for sodium nitroprusside test for melanuria
Red
35
Positive result for Ehrlich test for melanuria
Red
36
Most common IEM in the Philippines
MSUD
37
For px w/ MSUD, the gene that codes for the enzyme for metabolism of the ketoacids of _____, _____, and _____.
Leucine, isoleucine, valine
38
Screening test for MSUD
2,4-dinitrophenylhydrazine (DNPH)
39
Confirmatory test for MSUD
Gas or thin-layer chromatography, nuclear magnetic resonance spectro
40
Glutaric acidemia aka
Isovaleric acidemia
41
Organic acidemia detected using p-nitroaniline test
Methylmalonic acidemia
42
p-nitroaniline test positive result for methylmalonic acidemia
Emerald green
43
For px w/ indicanuria, their urine color turns into ____ upon air exposure
Indigo blue
44
Blue-diaper syndrome
Hartnup’s disease
45
Indicanuria is seen in which conditions?
Hartnup’s disease & intestinal disorders
46
What bacteria can also make urine color blue?
P. aeruginosa
47
Phenyalalanine hydroxylase converts phenylalanine to ____.
Tyrosine
48
Screening test for indicanuria
Obermayer’s test
49
Obermayer’s test for indicanuria rgts
FeCl3, chloroform
50
Positive result for Obermayer’s test for indicanuria
Violet
51
Tyrosine aminotransferase converts tyrosine to:
p-hydroxyphenylpyruvic acid
52
p-hydroxyphenylpyruvate pxidase converts p-hydroxyphenylpyruvic acid into?
Homogentisic acid
53
Homogentisic acid oxidase converts homogentisic acid into?
Maleylacetoacetic acid
54
Maleylacetoacetic acid isomerase converts maleylacetoacetic acid into?
Fumarylacetoacetic acid
55
Fumarylacetoacetic acid hydrolase converts fumarylacetoacetic acid into?
Fumaric acid & acetoacetic acid
56
Increased in type 1a tyrosinemia
Fumarylacetoacetic acid
57
Increased in type 1b tyrosinemia
Maleylacetoacetic acid
58
Increased in type 2 tyrosinemia
Tyrosine
59
Increased in type 3 tyrosinemia
p-hydroxyphenylpyruvic acid
60
Normal degradation product of tryptophan
Indole
61
What converts tryptophan to excess indole?
Bacteria
62
What organ converts excess indole to indican?
Liver
63
Indole is usually found in?
Feces
64
Argentaffinoma is a tumor of _____ cells.
Argentaffin/enterochromaffin
65
Enterochromaffin/argentaffin cells produce _____
Serotonin
66
Serotonin metabolic product
5-HIAA
67
Screening tests for argentaffinoma
FeCl3 tube test, nitroso-naphthol w/ nitrous acid
68
Positive result for Nitrosonaphthol w/ nitrous acid for argentaffinoma
Violet
69
Px w/ argentaffinoma should avoid eating _____.
Bananas, tomatoes, pineapples
70
Tests for cystinuria and cystinosis
Brand’s modification of Legal’s nitroprusside, thin layer or ion-exchange chromatography, high-voltage electrophoresis
71
During cystinuria, defective tubular reabsorption of which amino acids are present?
Cystine, ornithine, lysine, arginine
72
Reagent for Brand’s modofication of Legal’s nitroprusside
Cyanide nitroprusside
73
Positive color for Brand’s modification of Legal’s nitroprusside
Red-purple
74
Which of the following is an inborn error of metabolism? A. Cystinuria B. Cystinosis
B. Cystinosis
75
Gene that codes for enzyme responsible for cystine metabolism is not present A. Cystinuria B. Cystinosis C. Homocystinuria
B. Cystinosis
76
Defects in the metabolism of methionine leading to increased homocystine
Homocystinuria
77
During homocystinuria, the gene that codes for the enzyme _____ is absent.
Cystathione B-synthase
78
Homocystinuria is detected by the _____ test with a positive result of _____.
Silver-nitroprusside; red-purple
79
Urine color for px w/ porphyrin disorders
Red, purple, burgundy-red, purplish red, portwine
80
Color of urine in lead poisoning
Colorless
81
Match the ff porphyrin disorders with the corresponding enzymes that are absent: 1. ALA hydratase deficiency porphyria 2. Acute intermittent porphyria 3. Hereditary coproporphyria 4. Variegate porphyria 5. Congenital erythropoietic porphyria 6. Porphyria cutanea tarda ``` A. Protoporphyrinogen B. Uroporphyrinogen synthase C. Uroporphyrinogen cosynthase D. Coproporphyrinogen oxidase E. Uroporphyrinogen decarboxylase F. Aminolevulinic acid synthetase ```
1. F 2. B 3. D 4. A 5. C 6. E
82
Screening test specimens for porphyrias
Urine, stool, blood, bile
83
Which enzymes are affected during lead poisoning?
ALA synthetase | Ferrochelatase
84
Upon lead exposure, which heme precursors may be increased?
D-ALA & protoporphyrin IX
85
Ehrlich’s rxn for porphyrias detects:
D-ALA & porphobilinogen
86
CDC recommended test for lead poisoning
Free erythrocyte protoporphyrin (FEP)
87
Fluorescence at 550-600 nm tests for which heme precursors?
Uroporphyrin, coproporphyrin & protoporphyrin
88
Positive result for fluorescence at 550-600 nm for porphyrias
Violet / pink / red fluorescence
89
Metabolic disorder where dermatan sulfate, keratan sulfate and heparan sulfate are frenquently found in the px urine
Mucopolysaccharide disorders
90
Screening tests for mucopolysaccharide disorders
Acid albumin, cetyltrimethylammoniumbromide (CTAB) test, mucopolysaccharide paper test
91
What are the positive results for each of the ff MPS disorder screening tests? 1. Acid albumin 2. CTAB test 3. MPS paper test
1. White turbidity 2. White turbidity 3. Blue color
92
Which MPS disorder is described: 1. Sex-linked recessive, rarely seen in females, skeletal abnormalities, and mental retardation present 2. Mental retardation is the only abnormality 3. MPS accumulate in the cornea of the eye, skeletal abnormalities & mental retardation present
1. Hunter syndrome 2. Sanfilippo syndrome 3. Hurler syndrome
93
Metab disorder wherein the gene that codes for the enzyme hypoxanthine guanine phosphoribosyltransferase is absent
Lesch-Nyhan disease
94
Purine disorder
Lesch-Nyhan syndrome
95
During Lesch-Nyhan syndrome, uric acid is increased in the blood and urine causing ______ in diapers
Orange sand
96
Presence of any sugar in urine
Melituria
97
During carbohydrate disorders, what is the expected result in rgt strip and in copper reduction test?
Rgt strip - Negative | Copper reduction - Positive
98
Most severe carbohydrate disorder because it is assoc with infant failure to thrive, liver disorders, cataracts and severe mental retardation
Galactosemia/galactosuria
99
Inability to metabolize galactose to glucose
Galactosemia/galactosuria
100
Match the ff benign carb disorders w/ their descriptions: 1. Assoc with ingestion of large amt of fruit 2. Seen during pregnancy & lactation 3. Assoc with parental feeding A. Lactosuria B. Pentosuria C. Fructosuria
1. B. Pentosuria 2. A. Lactosuria 3. C. Fructosuria
101
Newborn screening: State laws require that blood be collected after _____ after birth and before newborn leaves the hospital
24 hrs
102
Deficient production of melanin results in?
Albinism
103
True or false: the appearance of black urine from a px OF ANY AGE should be reported to the supervisor
True
104
A significant lab finding in branched-chain amino acid disorders is the presence of ____ in a newborn
Ketonuria
105
The sweaty feet odor in isovalericc acidemia is caused by the accumulation of _____
Isovalerylglycine
106
The portwine urine color is more prevalent in the ____ porphyrias
Erythropoietic
107
Lead poisoning inhibits _____ and _____ enzymes
ALA synthetase, ferrochelatase

Analysis of Urine and Other Body Fluids (18 decks)

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