Porphyrias Flashcards

1
Q

Lead Poisoning inhibits what enzymes?

A

Ferrochelatase

ALA Dehydratase

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2
Q

What accumulates in Lead Poisoning?

A

Protoporphyrin

D-ALA

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3
Q

What two steps in heme synthesis occur in mitochondria?

A

D-ALA Synthase (rate limiting)

Ferrochelatase

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4
Q

Acute Intermittent Porphyria what enzyme defect?

A

Porphobilinogen Deaminase

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5
Q

What builds up in Acute Intermittent Porphyria?

A

Porphobilinogen

D-ALA

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6
Q

What builds up in urine in Acute Intermittent Porphyria?

A

Coporphobilinogen

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7
Q

Symptoms of AIP?

A
Painful Abdomen
Port wine-colored urine (changes color)
Polyneuropathy
Psych disturbances
Precipitated by CYP inducers, alcohol, starvation
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8
Q

Treatment of AIP?

A

Glucose and Heme

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9
Q

Porphyria Cutanea Tarda enzyme defect?

A

Uroporphyrinogen Decarboxylase

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10
Q

What builds up in Porphyria Cutanea Tarda?

A

Uroporphyrin (tea-colored urine)

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11
Q

Symptoms of Porphyria Cutanea Tarda?

A

Blistering Cutaneous Photosensitivity

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12
Q

Sideroblastic Anemia (X-linked) what enzyme defect?

A

D-ALA Synthase

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13
Q

Glycine/Succinyl CoA -> D-ALA

A

D-ALA Synthase (requires B6)

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14
Q

D-ALA -> Porphobilinogen

A

D-ALA Dehydratase (Pb Poisoning)

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15
Q

Porphobilinogen -> Hydroxymethylbilane

A

Porphobilinogen Deaminase (AIP)

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16
Q

Uroporphyrinogen III -> Coproporphyrinogen III

A

Uroporphyrinogen Decarboxylase (PCT)

17
Q

Protoporphyrin/Fe -> heme

A

Ferrochelatase (Pb Poisoning)