Porphyrias Flashcards
1
Q
Cause of Acute Intermittent Porphyria
A
HMB (Hydroxymethylbilane) synthase deficiency
2
Q
Cause of Hereditary Coproporphyria
A
Coproporphyrinogen oxidase
3
Q
Cause of Variegate porphyria
A
Protoporphyrinogen oxidase
4
Q
Cause of Congenital Erythropoietic porphyria
A
Uroporphyrinogen III synthase
5
Q
Cause of Erythropoietic porphyria
A
Ferrochetalase deficiency
6
Q
Cause of porphyria cutanea tarda
A
Uroporphyrinogen decarboxylase deficiency
7
Q
Which porphyrias don’t have any skin manifestations?
A
ALA dehydratase deficiency porphyria
Acute Intermittent porphyria (HMB synthase)
8
Q
General treatment measures for acute porphyria
A
Carbohydrate diet (e.g. IV dextrose)
Haem arginate
Analgesia
