Porphyria

Question 1

Cutaneous Photosensitivity=

Answer 1

Abnormal Skin reaction to UV (and sometimes visible) light

Question 2

Porphyria=

Answer 2

Hereditary disease, where there is a build up of porphrins, cause by reduced enzyme activity in the haem pathway. These porphrins react with light to produce skin reactions.

Question 3

What are the three most common Porphyrias?

Answer 3

PCT, EPP, AIP

Question 4

What enzyme is there a deficiency of in PCT?

Answer 4

Uroporphyrinogen

Question 5

What is there a build up of in PCT?

Answer 5

Uroporphyrins

Question 6

What enzyme is there a deficiency of in EPP?

Answer 6

Ferrochelatase

Question 7

What is there a build up of in EPP?

Answer 7

Protoporphyrins

Question 8

What enzyme is there a deficiency of in AIP?

Answer 8

PBG deaminase

Question 9

What is there a build up of in AIP?

Answer 9

Uroporphyrins

Question 10

Which porphyrias cause photosensitive reactions?

Answer 10

PCT and EPP

AIP does not

Question 11

Which porphyria(s) cause blistering?

Answer 11

PCT causes blistering

EPP does not