Porphyrias Flashcards

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1
Q

Females (3o y/o), acute abdomen, mood disturbance/neuro symptoms and intermittent photosensitivity? Dx?

A

Acute intermittent porphyria

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2
Q

Enzyme deficiency in acute intermittent porphyria?

A

Porphobiliongen deaminase

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3
Q

Porphyrin accumulated in acute intermittent porphyria ?

A

Porphobilionogen

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4
Q

Middle aged men with liver disease - photosensitive lesions on backs of hands Dx?

A

Porphyria cutanea tarda

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5
Q

Enzyme def in prophyria cutanea tarda?

A

Uroporphophyrinogen decarboxylase

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6
Q

Porphyrin accumulated in PCT?

A

Uroporphyrinogen 3

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7
Q

Baby crying in sun Dx?

A

Erythropoetic protoporphyria (EPP)

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8
Q

Enzyme def in EPP?

A

Ferrochelatase

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9
Q

Porphyria accumulated in EPP?

A

Protoporphyrin IX

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