Porphyrias Flashcards
1
Q
what are porphyrias
A
def in enz involved in haem biosynthesis -> toxic build up of haem precursors
2
Q
inheritance and def in Acute intermittent pyphoria (AIP)
A
audo dom def in HMB synthase
3
Q
how is AIP diagnosed
A
ALA + PBG in urine (“port wine urine”)
4
Q
sympto in AIP
A
neuro-visceral sympto
abdo pain, siezures, psych disturbances, N&V
5
Q
Acute pyphoria with skin lesions
A
HCP and VP def
Neuro-visceral sympto + Skin lesions
inc porphyrins in faeces/urine
6
Q
sympto in non-acute pyphorias
A
skin lesions only
EPP def -> photosensitivity
PCT def -> vesicles on sun exposed sites
