Porphyria Flashcards
1
Q
How does EPP present?
A deficiency of what enzyme?
What therefore builds up?
A
A child crying in the sun, autosomal dominant, may be no obvious rash.
Deficiency of ferrocheletase
Accumulation of protoporhytin IX
2
Q
Acute intermittent porphyria presentation?
A deficiency of what ?
What builds up?
A
Abdominal pain, neurological disease, females aged 30.
Deficiency of pophybiloingen deaminase.
Build up of porphybiliongen.
NO CUTANEOUS SYMTOPS>
3
Q
PCT presentation?
Deficiency of what?
Build up of what?
A
Middle aged men with liver disease who get a blistering rash in the sun.
Deficiency of uroporphyrinogen decarboyxlase.
Build up of uroporhyrinogen 3.
