PORPHYRIAS Flashcards

1
Q

URINE COLOR

A

Red / purple / burgundy-red / red-purplish

PORT WINE

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2
Q

Urine color in LEAD POISONING

A

COLORLESS

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3
Q

ALA hydratase deficiency porphyria

A

Aminolevulinic acid (ALA) synthetase

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4
Q

Acute intermittent porphyria

A

UROPORPHYRINOGEN SYNTHETHASE

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5
Q

Congenital erythropoietic porphyria

A

UROPORPHYRINOGEN COSYNTHASE

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6
Q

Porphyria cutanea tarda

A

UROPORPHYRINOGEN DECARBOXYLASE

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7
Q

Hereditary coproporphyria

A

COPROPORPHYRINOGEN OXIDASE

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8
Q

Variegate porphyria

A

Protoporphyrinogen oxidase

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9
Q

SCREENING TESTS

A

Ehrlich’s RXN
Fluorescence @ 550-600 nm
FEP

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10
Q

SPECIMEN

A

Urine, blood, stool, bile

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11
Q

Ehrlich’s rxn

A

Detects D-ALA and porphobilinogen

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12
Q

Fluorescence @ 550-600 nm

  1. Test for
  2. Result
A
  1. Uroporphyrin, coproporphyrin, protoporphyrin

2. Violet / pink / red fluorescence

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13
Q

CDC- recommended test for lead poisoning

A

FREE ERYTHROCYTE PROTOPORPHYRIN

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