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ANURBF LEC > [3] LESSON 8: SCREENING FOR METABOLIC DISORDERS > Flashcards

[3] LESSON 8: SCREENING FOR METABOLIC DISORDERS Flashcards

1
Q

Other name: Overflow

A

Primary Type

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2
Q

Other name: Renal

A

Secondary

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3
Q

Deficiency: Enzyme

A

Primary Type

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4
Q

Deficiency: Congenital defect in AA transport system

A

Secondary

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5
Q

AA in blood: Increased

A

Primary Type

Secondary

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6
Q

AA in urine: increased

A

Primary
Secondary

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7
Q

AA in urine: Decreased

A

Secondary

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8
Q

: generalized failure in proximal convoluted tubule reabsorption

A

Fanconi’s Syndrome

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9
Q

: failure to inherit a gene that codes for a particular enzyme

A

Inborn Error of Metabolism (IEM)

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10
Q

Deficiency in phenylalanine hydroxylase

A

Phenylketonuria

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11
Q

Mousy odor with increased pyruvic acid

A

Phenylketonuria

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12
Q

Guthrie Bacterial Inhibition Test

A

Phenylketonuria

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13
Q

Phenylketonuria Confirmatory test:

A

Ion exchange HPLC

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14
Q

Rancid butter odor

A

Tyrosyluria

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15
Q

Nitrosonaphthol: orange red

A

Tyrosyluria

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16
Q

Tyrosyluria

(-) for a gene that decodes for
Type 1-
Type 2-
Type 3-

A

Fumarylacetoacetate hydrolase (FAH)
Tyrosine aminotransferase
p-hydroxyphenylpyruvic acid dioxygenase

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17
Q

May also be seen in patients with severe liver disease

A

Tyrosyluria

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18
Q

Deficiency in homogentisic acid oxidase

A

Alkaptonuria

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19
Q

Increased homogentisic acid

A

Alkaptonuria

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20
Q

Melanuria

Color:__________

A
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21
Q

Urine darkens upon air exposure

A

Melanuria

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22
Q

Maple syrup urine odor

A

(a-ketoisovaleric acid, aketoisocaproic acid, aketo-b-methylvaleric acid)

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23
Q

Confirmatory Test: Gas/TLC or Nuclear Magnetic Resonance Spectro

A

MSUD

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24
Q

Sweaty feet

A

Isovaleric

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25
Q

Color: indigo blue

A

Indicanuria

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26
Q

Hartnup disease: renal tubular abnormality

A

Indicanuria

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27
Q

Sulfur odor

A

Cystinuria
Cystinosis
Homocystinuria

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28
Q

*calculus formation

A

Cystinuria

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29
Q

Fanconi’s Syndrome (+ glucose, AA, PO4)

A

Cystinosis

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30
Q

Defects in methionine metabolism

A

Homocystinuria

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31
Q

ALA hydratase def porphyria

A

ALA synthetase

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32
Q

Acute Intermittent porphyria

A

Uroporphyrinogen synthase

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33
Q

Congenital erythropoietic porphyria

A

Uroporphyrinogen cosynthase

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34
Q

Hereditary coproporphyria

A

Coproporphyrinogen oxidase

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35
Q

Porphyria cutanea tarda

A

Uroporphyrinogen decarboxylase

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36
Q

Variegate porphyria

A

Protoporphyrinogen oxidase

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37
Q

PORPHYRIA

Specimen:

A

Urine, stool, blood, bile

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38
Q

Detects d-ALA and porphobilinogen

A

Ehrlich’s Rxn

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39
Q

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

A

Fluorescence at 550-600 nm

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40
Q

CDC-recommended test for Lead Poisoning

41
Q
  • Affect or override tubular reabsorptive capacity of the nephron or failure to inherit a gene required for normal tubular reabsorption
A

Hereditary and Metabolic Disorders

42
Q

: inherited defect in tubular response to ADH or acquired from medications

A

Nephrogenic Diabetes Insipidus

43
Q

Testing for many substances is now performed using

A

Tandem Mass Spectrophotometry (MS/MS)

44
Q

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

A

Tandem Mass Spectrophotometry (MS/MS)

45
Q

A. PHENYLALANINE-TYROSINE AMINOACIDURIAS

A

Phenylketonuria
Tyrosyluria
Alkaptonuria
Melanuria

46
Q

B. BRANCHED-CHAIN AMINOACIDURIAS

47
Q

ORGANIC ACIDEMIAS

A

Isovaleric
Propionic
Methylmalonic

48
Q

C. TRYPTOPHAN AMINOACIDURIA

A

Indicanuria
5-HIAA

49
Q

D. CYSTINE AMINOACIDURIA

A

Cystinuria
Cystinosis
Homocystinuria

50
Q

PORPHYRIAS

A

ALA hydratase def porphyria
Acute Intermittent porphyria
Congenital erythropoietic porphyria
Porphyria cutanea tarda
Hereditary coproporphyria
Variegate porphyria

51
Q

SCREENING TESTS

A

Ehrlich’s Rxn
Fluorescence at 550-600 nm
FEP

52
Q

Phenylketonuria FeCl3:

A

blue green

53
Q

Phenylketonuria 2,4-DNPH:

54
Q

The most well-known of the aminoacidurias which may lead to severe mental retardation.

A

Phenylketonuria

55
Q

Inherited/metabolic defect

A

Tyrosyluria

56
Q

Tyrosyluria

FeCl3:

A

transient green

57
Q

Increased homogentisic acid

A

Alkaptonuria

58
Q

Alkaptonuria

FeCl3:

A

transient deep blue

59
Q

Alkaptonuria

Clinitest:

A

yellow ppt

60
Q

Alkaptonuria

Alkalinization:

61
Q

Alkaptonuria

Addition of AgNO3 & NH4OH:

62
Q

Melanoma

63
Q

Tumors secrete [?] which oxidizes to melanogen then to melanin.

A

5,6-dihydroxyindole

64
Q

Melanuria

FeCl3:

A

gray/black ppt

65
Q

Melanuria

Na Nitroprusside:

66
Q

Melanuria

Erhlich’s:

67
Q

Failure to inherit gene for oxidative decarboxylation

68
Q

MSUD

2,4-DNPH:

A

yellow turbidity/ppt

69
Q

MSUD

FeCl3:

A

green-gray

70
Q

Isovaleryl CoA deficiency

A

Isovaleric
Propionic
Methylmalonic

71
Q

Error in the metabolic pathway

A

Isovaleric
Propionic
Methylmalonic

72
Q

Methylmalonic

p-nitroaniline test:

A

emerald green

73
Q

Intestinal disorders- obstruction, bacteria, malabsorption

A

Indicanuria

74
Q

Indicanuria

FeCl3:

A

deep blue/violet

75
Q

Argentaffin cell tumors

76
Q

> 25mg/day

77
Q

5-HIAA

Nitrosonaphthol:

A

purple to black

78
Q

5-HIAA

FeCl3:

A

blue-green

79
Q

Inability of the tubules to reabsorb cystine

A

Cystinuria

80
Q

Cystinuria

Cynide-nitroprusside test:

A

red-purple

81
Q

Incomplete cystine metabolism

A

Cystinosis

82
Q

Cystinosis

Cynide-nitroprusside test:

A

red-purple

83
Q

Homocystinuria

Cynide-nitroprusside test:

A

red-purple

84
Q

: disorders in porphyrin metabolism

A

PORPHYRIAS

85
Q

Coproporphyrinogen oxidase

A

Hereditary coproporphyria

86
Q

color reaction of MSUD in FeCl3 test

87
Q

porphyria deficient in protoporphyrinogen oxidase

88
Q

deficiency in homogentisic acid oxidase

89
Q

color of melanuria in Na nitroprusside test

90
Q

bacterial inhibition test for PKU

91
Q

color of PKU in 2,4DNPH

92
Q

odor of urine in isovaleric acidemia

93
Q

mousy odor

94
Q

odor associated with tyrosyluria

95
Q

color of urine in indicanuria

96
Q

POINTS to PONDER…..
Shortly after arriving for the day shift in the urinalysis lab, a Medtech notices that an undiscarded urine has a black color. The previously completed report indicates the color to be yellow. Is this observation significant? What two reactions might be seen with the FeCL3 test? What FeCl3 reaction would correlate with a positive Clinitest?

97
Q

PKU, MSUD

Cystinuria, Fanconi’s syndrome

A

Primary

Secondary

98
Q
  • Affect or override tubular reabsorptive capacity of the nephron or failure to inherit a gene required for normal tubular reabsorption.
A

Hereditary and Metabolic Disorders

99
Q

: inherited defect in tubular response to ADH or acquired from medications

A

Nephrogenic Diabetes Insipidus

ANURBF LEC (9 decks)

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