Porphyrias

Question 1

What’s the enzyme deficiency in porphyria cutanea tarda?

Answer 1

Uroporphyrinogen decarboxylase

Question 2

What’s the enzyme deficiency in erythropoietic protoporphyria?

Answer 2

Ferrochelatase

Question 3

What’s the enzyme deficiency in acute intermittent porphyria?

Answer 3

PBG deaminase

Question 4

What type of porphyria does uroporphyrinogen decarboxylase deficiency cause?

Answer 4

Porphyria cutanea tarda

Question 5

What type of porphyria does ferrochelatase cause?

Answer 5

Erythropoietic protoporphyria

Question 6

What type of porphyria does PBG deaminase deficiency cause?

Answer 6

Acute intermittent porphyria

Question 7

Commonest porphyria in kids?

Answer 7

Erythropoietic porphyria

Question 8

Which porphyria presents with abdominal pain, hypertension & dark / red urine?

Answer 8

Acute intermittent porphyria

Question 9

Which porphyria presents with bullous eruptions on exposure to light?

Answer 9

PCT

Question 10

Which porphyria is commonest in adults in scotland?

Answer 10

PCT

Question 11

List triggers of PCT

Answer 11

Alcohol
Hepatitis C
Iron overload
HIV

Question 12

Potential complication of PCT?

Answer 12

liver cirrhosis

Question 13

Which porphyria presents with burning and itching on sun exposure?

Answer 13

EPP

Question 14

PCT is caused by a deficiency of uroporphyrinogen decarboxylase. What’s the name of the substance that builds up as a result?

Answer 14

Coproporphyrinogen III

Question 15

EPP is caused by a deficiency of ferrochelatase. What’s the name of the substance that builds up as a result?

Answer 15

Protoporphyrin IX

Question 16

AIP is caused by a deficiency of PBG deaminase. What’s the name of the substance that builds up as a result?

Answer 16

Hydroxymethylbilane