Genetics Flashcards
(4 cards)
1
Q
What is the inheritance pattern of acute intermittent porphyria?
A
Autosomal dominant
2
Q
Which enzyme is defective in acute intermittent porphyria?
A
Porphobilinogen deaminase, involved in biosynthesis of haem
3
Q
What is the classical presentation of acute intermittent porphyria?
A
- Abdominal pain, vomiting
- Motor neuropathy
- Psychiatric: depression, labile mood
- Hypertension and tachycardia are also common
4
Q
How can acute attacks of acute intermittent porphyria be managed?
A
IV haematin or haem arginate.
If not immediately available, IV glucose should be used.
