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ANURBF MIDTERM > SCREENING FOR METABOLIC DISORDERS > Flashcards

SCREENING FOR METABOLIC DISORDERS Flashcards

1
Q

Many of the abnormal results obtained in routine urinalysis are related to [?] rather than renal disease

A

metabolic disorders

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2
Q

Urine may contain additional abnormal substances not tested by routine urinalysis –can be detected or monitored by additional abnormal screening tests that can also be performed in urinalysis laboratory

A
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3
Q

-Result from disruption of a normal metabolic pathway that causes increased plasma concentrations of amino acids

A

Overflow

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4
Q

-Due to defective tubular reabsorption of amino acids

A

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

A

Tandem Mass Spectrophotometry (MS/MS)

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7
Q

It is capable of screening infant blood sample for specific substances associated with particular IEMs

A

Tandem Mass Spectrophotometry (MS/MS)

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8
Q

Amino Acid Disorders

A

Phenylketonuria (PKU)
Tyrosyluria
Alkaptonuria
Melanuria
Maple syrup urine disease(MSUD)
Organic acidemias
Indicanuria
Cystinuria
Cystinosis

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9
Q

-Aminoacidurias

A

Phenylketonuria

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10
Q

-(-) gene that codes for Phenylalanine Hydroxylase

A

Phenylketonuria

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11
Q

-“Mousy” urine odor

A

Phenylketonuria

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12
Q

Screening Tests:

A

FeCl3 tube test
Phenistixstrip

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13
Q

= (+) blue-green color

A

FeCl3 tube test

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14
Q

= (+) gray to gray-green color

A

Phenistixstrip

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15
Q

•B.subtilisis cultured with Beta-2-thienylalanine (TE)

A

Guthrie bacterial inhibition test

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16
Q

•B2-TE inhibits the growth of B.subtilis

A

Guthrie bacterial inhibition test

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17
Q

•Phenylalanine counteracts the action of B2-TE

A

Guthrie bacterial inhibition test

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18
Q

-accumulation of excess tyrosine in the plasma (tyrosinemia) producing urinary overflow

A

Tyrosyluria

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19
Q

Tyrosyluria (-) for a gene that decodes for:

A

Type 1: Fumarylacetoacetatehydrolase (FAH)
Type 2: Tyrosine aminotransferase
Type 3: p-hydroxyphenylpyruvicacid dioxygenase

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20
Q

: Fumarylacetoacetatehydrolase (FAH)

A

Type 1

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21
Q

: Tyrosine aminotransferase

A

Type 2

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22
Q

: p-hydroxyphenylpyruvicacid dioxygenase

A

Type 3

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23
Q

-May also be seen in patients with severe liver disease (will produce tyrosine and leucinecrystals)

A

Tyrosyluria

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24
Q

-“Rancid butter” odor

A

Tyrosyluria

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25
Q

Tyrosyluria Screening:

A

Nitrosonaphthanol

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26
Q

Tyrosyluria Confirmatory:

A

Chromatography

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27
Q

-Deficiency in homogentisicacid oxidase

A

Alkaptonuria

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28
Q

-Increased homogentisicacid

A

Alkaptonuria

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29
Q

-Produces brown pigment deposits in body tissues that can lead to arthritis, and liver and cardiac problems.

A

Alkaptonuria

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30
Q

Ferric chloride tube test

A

Alkaptonuria

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31
Q

Benedict’s test

A

Alkaptonuria

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32
Q

Alklinizationof fresh urine

A

Alkaptonuria

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33
Q

-Increased urinary melanin that produces a darkening of urine

A

Melanuria

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34
Q

-Indicates malignant melanoma

A

Melanuria

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35
Q

-“black urine”

A

Melanuria

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36
Q

FeCl3 tube test

A

Melanuria

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37
Q

Sodium nitroprussidetest

A

Melanuria

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38
Q

Ehrlich test

A

Melanuria

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39
Q

The branched-chain amino acids differ from other amino acids by having a methyl (-CH3) group that branches from the main aliphatic carbon chain

A

Branched-Chain Aminoacidurias

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40
Q

Two major groups:
1.Accumulation of one or more of the early amino acid degradation products (ex: MSUD)
2.Accumulation of organic acids produced further down in the amino acid metabolic pathway –Organic acidemias

A

Branched-Chain Aminoacidurias

41
Q

Clinical Findings: Ketonuria

A

Branched-Chain Aminoacidurias

42
Q

-Most common IEM in the Philippines

A

Maple Syrup Urine Disease

43
Q

-(-) Gene that codes for the enzyme for metabolism of the ketoacidsof Leucine, Isoleucineand Valine

A

Maple Syrup Urine Disease

44
Q

-“Caramelized sugar/Maple syrup/Curry” urine odor

A

Maple Syrup Urine Disease

45
Q

-Causes severe mental retardation, convulsions, acidosis, and hypoglycemia if untreated

A

Maple Syrup Urine Disease

46
Q

-Death occurs during first year

A

Maple Syrup Urine Disease

47
Q

2,4-dinitrophenylhydrazine

A

Maple Syrup Urine Disease

48
Q

FeCl3 tube test

A

Maple Syrup Urine Disease

49
Q

early severe illness, often with vomiting accompanied by metabolic acidosis; hypoglycemia; ketonuria; and increased serum ammonia

A

Organic Acidemias

50
Q

Isovalericacidemia–“sweaty feet” urine odor

A

Organic Acidemias

51
Q

Propionic acidemia

A

Organic Acidemias

52
Q

Methylmalonicacidemia–detected using p-nitroanilinetest

A

Organic Acidemias

53
Q

-increased urinary excretion of the metabolites indicanand 5-hydroxyindoleacetic acid

A

TRYPTOPHAN AMINOACIDURIA

54
Q

-increased amounts of tryptophan are converted to indole

A

Indicanuria

55
Q

Obstruction

A

Indicanuria

56
Q

Presence of abnormal bacteria

A

Indicanuria

57
Q

Hartnupdisease = Blue diaper syndrome

A

Indicanuria

58
Q

-Indigo blue urine color

A

Indicanuria

59
Q

Obermayer’stest

A

Indicanuria

60
Q

-Degradation product of serotonin (Serotonin is produced from tryptophan by argentaffincells in the intestines)

A

5-Hydroxyindoleacetic Acid

61
Q

-Argentaffincell tumors

A

5-Hydroxyindoleacetic Acid

62
Q

FeCl3 tube test

A

5-Hydroxyindoleacetic Acid

63
Q

Nitrosonaphtholwith nitrous acid

A

5-Hydroxyindoleacetic Acid

64
Q

Pxprep: Avoid eating foods rich in serotonin

A

5-Hydroxyindoleacetic Acid

65
Q

-A condition marked by elevated amounts of the amino acid cystinein the urine

A

Cystinuria

66
Q

-Due to inability of the renal tubules to reabsorb cystine filtered by the glomerulus

A

Cystinuria

67
Q

-Defective reabsorption: lysine, arginine, and ornithine, cystine

A

Cystinuria

68
Q

-Sulfur odor urine

A

Cystinuria

69
Q

-(-) gene that codes for an enzyme responsible fro cystine metabolism

A

Cystinosis

70
Q

-Cystine deposits in many areas of the body (BM, cornea, lymph nodes and internal organs)

A

Cystinosis

71
Q

Brand’s Modification of Legal’snitroprussidetest

A
72
Q

Reagent: Cyanide nitroprusside

A

Tests for Cystinuria and Cystinosis

73
Q

Thin layer or Ion-exchange chromatography

A

Tests for Cystinuria and Cystinosis

74
Q

High-voltage electrophoresis

A

Tests for Cystinuria and Cystinosis

75
Q

-Defect in the metabolism of the amino acid methionine(leads to increased homocystine)

A

Homocystinuria

76
Q

-(-) gene that codes for the enzyme cystathione betasynthase

A

Homocystinuria

77
Q

-Detected by silver-nitroprusside test

A

Homocystinuria

78
Q

-Disorders of porphyrin metabolism

A

PorphyrinDisorders

79
Q

-Urine color: Red, purple, burgundy red, purplshred, Port wine

A

PorphyrinDisorders

80
Q

-Lead Poisoning

A

PorphyrinDisorders

81
Q

ALA synthetase

A

ALA hydratasedefporphyria

82
Q

Uroporphyrinogen synthase

A

Acute Intermittent porphyria

83
Q

Uroporphyrinogen cosynthase

A

Congenital erythropoietic porphyria

84
Q

Uroporphyrinogen decarboxylase

A

Porphyria cutanea tarda

85
Q

Coproporphyrinogen oxidase

A

Hereditary coproporphyria

86
Q

Protoporphyrinogen oxidase

A

Variegate porphyria

87
Q

Detects d-ALA and porphobilinogen

A

Ehrlich’s Rxn

88
Q

Tests for uroporphyrin, coproporphyrin& protoporphyrin: violet/pink/red

A

Fluorescence at 550-600 nm

89
Q

CDC-recommended test for Lead Poisoning

A

FEP

90
Q

Accumulation of incompletely metabolized polysaccharide portions in the lysosome

A

MUCOPOLYSACCHARIDE DISORDERS

91
Q

-mucopolysaccharidesaccumulate in the cornea; skeletal structure abnormality and severe mental retardation

A

HURLER

92
Q

-skeletal structure abnormality and severe mental retardation

A

HUNTER

93
Q

-mental retardation only

A

SANFILIPO

94
Q

-cetyltrimethylammonium bromide test ==WHITE TURBIDITY

A

CTAB

95
Q

-massive excretion of uric acid crystals in the urine caused by:-Failure to inherit gene to produce

A

LESCH-NYHAN DISEASE

96
Q

:”orange sand” in diaper

A

PURINE DISORDERS

97
Q

HYPOXANTINE GUANINE

A

PURINE DISORDERS

98
Q

PHOSPHORIBOSYLTRANSFERASE

A

PURINE DISORDERS

ANURBF MIDTERM (10 decks)

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