Y2 Porphyrias Flashcards

1
Q

6 P’s of Acute Intermittent Porphyria

A
Porphobilinogen deaminase deficiency 
Painful abdomen
Psychiatric Symptoms
Polyneuropathy
Pee Abnormality
Precipitated by drugs
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2
Q

Enzyme deficiency in Acute Intermittent Porphyria

A

PBG Deaminase

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3
Q

Presentation of Porphyria Cutanea Tarda (PCT)

A

Men
Genetic / Alcoholic liver damage
Blisters & fragility
Hyperpigmentation, Hypertrichosis

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4
Q

Enzyme deficiency in Porphyria Cutanea Tarda (PCT)

A

Uroporphyrinogen Decarboxylase

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5
Q

Presentation of Erythropoietic Protorphyria

A

Redness on the hands
Prickling/burning sensation
May have scars similar to chicken pox but elongated

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6
Q

Enzyme deficiency in Erythropoietic Protorphyria

A

Ferrochelatase

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7
Q

Investigation of choice for suspected Porphyrias

A

Woods Lamp

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